{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hepatitis, chronic active","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1093,"omia_phene_id":1,"omia_record_id":"OMIA:001093-9615","publication_ids":[51078,55364,55365,55366,57356,112661,129858],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1","source_release":"retrieved-2026-09-12","summary":"Chronic active hepatitis is one of the common causes of hepatic encephalopathy. In reviewing the published literature on dogs, Rothuizen et al. (1993) concluded that chronic active hepatitis is a \"sex-linked disorder of females\", most likely due to an immune defect.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hepatitis, neonatal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1094,"omia_phene_id":2,"omia_record_id":"OMIA:001094-9615","publication_ids":[51078,55367,55368],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2","source_release":"retrieved-2026-09-12","summary":"This disorder is one of the common causes of hepatic encephalopathy.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polymicrogyria and asymmetrical ventricular dilation","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1098,"omia_phene_id":6,"omia_record_id":"OMIA:001098-9615","publication_ids":[49069],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6","source_release":"retrieved-2026-09-12","summary":"This disorder was first reported in dogs by van Winkle et al. (1994). Its major clinical manifestation is blindness.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hernia, perineal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1103,"omia_phene_id":13,"omia_record_id":"OMIA:001103-9615","publication_ids":[54989,59405,81557,82465,85451,107496,107608],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:13","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thrombocytopenic purpura, autoimmune","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1104,"omia_phene_id":14,"omia_record_id":"OMIA:001104-9615","publication_ids":[9784,55221,59912,67433,68426,70172,99604,115107],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:14","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boston Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200204"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Plott Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201023"}],"characterised":true,"characterised_year":1992,"clinical_features":"","defect":true,"group_name":"Mucopolysaccharidosis I","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Mucopolysaccharidosis I","omia_group_id":664,"omia_phene_id":16,"omia_record_id":"OMIA:000664-9615","publication_ids":[7430,12596,21477,28080,33935,54990,66337,68296,69011,72198,82562,85866,85931,102476,107223,109071,109075,109077,109093,109095,109096,109288,109348,110326,110328,110329,110330,110331,113607,113629,114199,116182,116343,116395,116396,116397,116797,117690,120515,120540,120621,120693,120896,122221,122335,122727,124087,124090,126954,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:16","source_release":"retrieved-2026-09-12","summary":"The mucopolysaccharidoses (MPS) are a group of hereditary diseases characterized by defective metabolism of glycosaminoglycans (mucopolysaccharides), which accumulate in lysosomes in various tissues.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Mycosis fungoides","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1109,"omia_phene_id":24,"omia_record_id":"OMIA:001109-9615","publication_ids":[56686,67813],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:24","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Otitis externa, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1110,"omia_phene_id":25,"omia_record_id":"OMIA:001110-9615","publication_ids":[56284,66265,66700,76276,80412,83855,84927,88631,90669,92007,99097,100958,101521,101583,101869,102290,102786,106447,107280,117525,117677,119249,121712,122419,124564,126525,129522,129985,133323,133535],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:25","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"}],"characterised":true,"characterised_year":1998,"clinical_features":"","defect":true,"group_name":"C3 deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013417","iri":"http://purl.obolibrary.org/obo/MONDO_0013417","label":"complement component 3 deficiency"}],"name":"","omia_group_id":155,"omia_phene_id":31,"omia_record_id":"OMIA:000155-9615","publication_ids":[21671,56752,80261,114936,114937,114938,114940,114941,114942,114943,114944,114945,114946,114947,114948,114949,114950,114951,114952],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:31","source_release":"retrieved-2026-09-12","summary":"Deficiency of the third component of complement results in susceptibility to a range of bacterial infections and to type 1 membranoproliferative glomerulonephritis. ","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200408"},{"name":"Pastor Garafiano, Spain (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0008023"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ehlers-Danlos syndrome, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":327,"omia_phene_id":38,"omia_record_id":"OMIA:000327-9615","publication_ids":[7310,13035,70869,83090,105184,115864,115865,115866,115867,115868,116214,116602,116605,116606,116607,122707,122808,125684,132256],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:38","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Goitre, familial","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010135","iri":"http://purl.obolibrary.org/obo/MONDO_0010135","label":"thyroid dyshormonogenesis 3"}],"name":"","omia_group_id":424,"omia_phene_id":44,"omia_record_id":"OMIA:000424-9615","publication_ids":[13269,112348],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:44","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Navasota (mixed breed) (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200929"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"}],"characterised":true,"characterised_year":1994,"clinical_features":"Affected males exhibit proteinuria and develop rapidly progressive renal failure, which is usually fatal before 1 year of age in the Samoyed and 18 months of age in the Navasota mixed breed model. Heterozygous female Samoyeds may present with a wide range of renal function, from normal to initially having proteinuria and occasionally microscopic hematuria, but most were healthy until 5 years of age (Baumal et al., 1991). With age, approximately 31% of carrier female Samoyeds developed mild renal disease, and 38% progressed to end-stage renal disease. Possible clinical features may also include hearing loss (Harvey et al., 2001) and and anterior lenticonus (Kashtan, 2002). [IT thanks DVM student Muhammad Elsayed for contributions to this entry in April 2022]","defect":true,"group_name":"Nephritis, X-linked","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010520","iri":"http://purl.obolibrary.org/obo/MONDO_0010520","label":"X-linked Alport syndrome"}],"name":"Alport syndrome, X-linked hereditary nephropathy, glomerulonephritis, X- linked nephritis","omia_group_id":1112,"omia_phene_id":50,"omia_record_id":"OMIA:001112-9615","publication_ids":[5363,25155,26389,34947,47900,67685,74329,78996,87926,98112,105714,106098,107036,107447,107596,109497,109498,110460,114034,117533,117854,117855,117856,117857,117858,117859,117860,121581,123387,123388,126130,129207,130415],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:50","source_release":"retrieved-2026-09-12","summary":"X-linked nephritis is caused by mutations in the alpha 5 chain of collagen type IV (COL4A5), a key structural component of the glomerular basement membrane. Affected males have severely reduced COL4A5 levels and early-onset renal failure. For other types of hereditary nephritis see also: '<a href=\"../../../../../../OMIA002618/9615/\">OMIA:002618-9615</a> Nephropathy, COL4A4 related '; '<a href=\"../../../../../../OMIA001114/9615/\">OMIA:001114-9615</a> Nephritis, autosomal dominant'; <a href=\"../../../../../../OMIA000708/9615/\">OMIA:000708-9615</a>: Nephritis' and '<a href=\"../../../../../../OMIA000413/9615/\">OMIA:000413-9615</a> Glomerulonephritis'.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200255"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Nephritis, autosomal dominant","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"similar to Alport syndrome in humans","omia_group_id":1114,"omia_phene_id":52,"omia_record_id":"OMIA:001114-9615","publication_ids":[12645,25464,56579,103091,109499,109500,109501,121581,123924,125201],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:52","source_release":"retrieved-2026-09-12","summary":"The first report of this disorder in dogs was in Bull Terriers, by Hood et al. (1990). The same disorder in Dalmations was reported by Hood et al. (2002) [FN 13 Jan 2003]. For other types of hereditary nephritis see also: 'OMIA001359-9615 Nephritis, autosomal recessive'; 'OMIA001112-9615 Nephritis, x-linked' ;OMIA000708-9615 Nephritis' and 'OMIA 000413-9615 Glomerulonephritis'.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Airedale Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200008"},{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Black and Tan Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200168"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Chow Chow (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200361"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"German Wirehaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200602"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Hovawart (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200674"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Lhasa Apso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200824"},{"name":"Maltese Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200859"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"},{"name":"Sealyham Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201200"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"},{"name":"Wire Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201424"}],"characterised":true,"characterised_year":1989,"clinical_features":"Haemophilia B is characterised by frequent and spontaneous bleeding into joints, muscles, and body cavities, such as the chest and abdomen, due to a deficiency in factor IX (FIX, F9) (Nichols et al., 2020). This can eventually lead to arthropathy associated with progressive cartilage damage, chronic pain, lameness, and eventually joint destruction (Nichols et al., 2020). Prolonged bleeding from minor wounds and haemorrhagic complications post-surgery may also be observed (Nichols et al., 2010). Disease can be classified into mild, moderate, or severe based on plasma FIX levels with 60-70% of patients having a moderate or severe form (Nichols et al., 2020). Animals with the severe form (&lt;1% coagulation activity) can have bleeding episodes that are life threatening. Most carriers have a reduced FIX activity of 40-60% but do not exhibit spontaneous bleeding (Nakata et al., 2006). IT thanks DVM student Ruby Xu, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Haemophilia B","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010604","iri":"http://purl.obolibrary.org/obo/MONDO_0010604","label":"hemophilia B"}],"name":"","omia_group_id":438,"omia_phene_id":54,"omia_record_id":"OMIA:000438-9615","publication_ids":[3205,4700,8531,11000,14762,23787,42205,43824,47004,47135,59767,65427,66019,66190,66337,70177,70722,74722,76880,77998,78653,79464,84838,84925,85251,88093,88116,88136,92765,93112,93540,94047,97992,100401,106552,107034,107278,108961,109456,111196,112214,112273,112928,113173,113174,113178,113179,113181,113183,113184,114816,114827,114828,114829,114830,114831,114832,114833,114834,114835,114836,114839,114840,115487,115841,115937,116385,116388,116389,116390,116391,116392,117898,118487,118722,120515,120860,122436,122692,125206,125207,125208,126979,127699,130426,132363],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:54","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Poodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201048"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2002,"clinical_features":"Dogs with haemophilia A present with spontaneous bleeding, including bleeding in soft tissue, joints (causing lameness) and body cavities. Excessive bleeding is reported after tooth extraction or after deciduous teeth are lost and after surgery (Mischke et al., 1996; Nichols et al., 2010). Coagulation analysis will show a markedly prolonged activated partial thromboplastin time (APTT) with a low factor VIII activity (Gavazza et al., 2014; Nishitani and Kitoh, 2021). Severity of clinical presentation varies between breeds. IT thanks DVM student Yi Fei Choong, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Haemophilia A","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010602","iri":"http://purl.obolibrary.org/obo/MONDO_0010602","label":"hemophilia A"}],"name":"classical haemophilia/hemophilia","omia_group_id":437,"omia_phene_id":56,"omia_record_id":"OMIA:000437-9615","publication_ids":[4700,7045,7147,7254,7433,7665,8646,9097,9478,9827,9922,12746,14720,15142,20043,20044,23139,23923,24242,24445,25661,26919,28395,34382,34404,37498,38355,38845,39903,39910,40815,43824,46883,56769,62000,62128,64227,69301,69805,70928,71273,73360,75785,77385,78306,79924,80692,84958,85251,86688,87073,87312,87753,92293,92765,93540,94963,100488,102020,102434,106508,107181,107424,108580,109456,111186,111192,111196,112210,112211,112212,112213,112214,112215,112216,112217,112218,112219,112272,112273,112928,113175,113179,113180,113181,113184,114783,114809,114810,114811,114813,114814,114815,114816,114817,114818,114819,114820,114821,114822,114823,114824,114825,114826,114828,114834,114840,114842,115166,115642,115683,116007,116349,116385,116386,116391,116392,116412,117206,117243,117695,118115,118664,120515,121190,122436,122514,124603,124721,124804,125397,126460,126494,126979,126998,127065,128274,129981,132339,132363,132559,132988,133459],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:56","source_release":"retrieved-2026-09-12","summary":"The historical section of this entry is based on information in the review by Lozier and Nichols (2013). Some missing references were also gleaned from this review. FN is grateful to the authors for their very useful review.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Achondroplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":4,"omia_phene_id":67,"omia_record_id":"OMIA:000004-9615","publication_ids":[93788,109604],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:67","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Paresis, posterior","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":11,"omia_phene_id":76,"omia_record_id":"OMIA:000011-9615","publication_ids":[51179],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:76","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Adrenal cortical atrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":16,"omia_phene_id":82,"omia_record_id":"OMIA:000016-9615","publication_ids":[110769],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:82","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Afibrinogenaemia or hypofibrinogenaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":18,"omia_phene_id":83,"omia_record_id":"OMIA:000018-9615","publication_ids":[110740,113184,117633,117634,121932,121933],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:83","source_release":"retrieved-2026-09-12","summary":"see also <a href=\"https://omia.org/OMIA002382/9615/\">OMIA:002382-9615</a> : Afibrinogenaemia, FGA-related","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Alloxan-diabetes","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":29,"omia_phene_id":97,"omia_record_id":"OMIA:000029-9615","publication_ids":[42067,58501,68048],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:97","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Alopecia, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":30,"omia_phene_id":99,"omia_record_id":"OMIA:000030-9615","publication_ids":[12076,22131,46824,60420,60551,63434,69902,74481,82938,89699,90673,94681,102537,104686,107002,107003,107289,107308,108325,108591,108592,110009,114628,116819,116892,117292,117864,117865,117866,117867,117868,118169,118170,118171,118882,123572,123585,125600,126553,127829,128453,129172,132416,132527,133209],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:99","source_release":"retrieved-2026-09-12","summary":"includes references relating to alopecia X, hair cycle arrest","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Chow Chow (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200361"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"German Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201454"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Gordon Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200613"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Italian Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200713"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Large Munsterlander (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200816"},{"name":"Miniature Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200893"},{"name":"Mudi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200921"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Puli (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201102"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Sloughi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201242"},{"name":"Thai Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201348"},{"name":"Tibetan Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201351"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2007,"clinical_features":"In dogs, MLPH-related color dilution predisposes to a skin disease termed color dilution alopecia (CDA). The health problems appear to be specific to dogs. In other mammalian species, loss-of-function of the MLPH gene exclusively results in coat color dilution, without any known health problems (e.g. cats, mice, rats). A fraction of the dogs with MLPH-related dilute coat color develop hair loss or alopecia (Welle et al., 2009). This disease is termed color dilution alopecia (CDA). The CDA phenotype is highly variable in severity. Mildly affected dogs will show some hair loss, but are otherwise healthy and do not require therapy. In more severe forms, the hair loss can be extensive and a generalized inflammation of the skin may develop (folliculitis). This causes puritus and/or pain to the dogs and will require treatment with antibiotics. The skin infections in severely affected dogs will be recurring and require life-long treament. The pigment dilution leads to large melanin aggregates, the so-called macromelanosomes. Incorporation of large macromelanosomes into growing hair shafts reduces their mechanical stability and makes them susceptible to hair shaft breaks, which manifest as clinically visible hypotrichosis or alopecia. The proximal parts of broken hair shafts may irritate the infundibulum and this may cause the folliculitis. There are clear breed differences in the susceptibility to CDA. In some breeds, dilute-coloured dogs rarely or never develop CDA (e.g. Weimaraners). In other breeds, most or even all dilute-coloured dogs will develop CDA. It is therefore not recommended to introgress dilute alleles into new breeds. A deterrent example are the Labrador Retrievers with dilute coat colors (silver, charcoal, champagne) that were bred by introgression of Weimaraners into Labrador Retrievers. While the dilute Weimaraners are rarely or never affected with CDA, dilute colored Labrador Retrievers are very prone to develop a severe form of CDA. In dilute-colored dogs with white spotting, only the pigmented skin areas will be affected by CDA, while the unpigmented skin and hair remains normal. This phenotype has occasionally been termed black hair follicular dysplasia (BHFD), e.g. in Large Münsterlanders (von Bomhard et al., 2006). It is suggested to consistently apply the term CDA to all forms of alopecia that are caused by MLPH-related coat color dilution and pigment aggregation. The term BHFD has been used in different contexts and may also have been used for genetically distinct forms of alopecia (e.g. Bohnhorst et al., 2001).","defect":true,"group_name":"Coat colour, dilution, MLPH-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012220","iri":"http://purl.obolibrary.org/obo/MONDO_0012220","label":"Griscelli syndrome type 3"}],"name":"Colour mutant alopecia; Color dilution alopecia; Colour dilution alopecia; Black Hair Follicular Dysplasia; Blue Doberman Syndrome","omia_group_id":31,"omia_phene_id":101,"omia_record_id":"OMIA:000031-9615","publication_ids":[43193,56224,62212,63563,65282,67383,67920,73236,85199,87759,88827,99677,102256,107518,107558,107880,108085,109005,109602,109603,110403,110404,110405,115380,117863,120777,121716,122792,123125,123917,123923,124017,125653,127713,128998,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:101","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Alpha-1-antitrypsin deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":32,"omia_phene_id":102,"omia_record_id":"OMIA:000032-9615","publication_ids":[54619],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:102","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Alzheimer-like disease, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Canine cognitive dysfunction, CCD","omia_group_id":33,"omia_phene_id":103,"omia_record_id":"OMIA:000033-9615","publication_ids":[44336,73517,108997,108998,109000,109001,109002,110515,110516,120540,124633,124939,125228,125268,125294,125415,125444,125695,125905,125906,125936,125952,126589,128116,128571,128702,130003,130313,130590,130628,130784,130833,130869,130888,130960,131026,131050,132078,132094,132236,132537,132601,132619,132648,132694,132696,132809,132998,133013,133085,133240,133384,133395,133420,133493],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:103","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Amyloidosis, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":37,"omia_phene_id":110,"omia_record_id":"OMIA:000037-9615","publication_ids":[10510,32602,33034,51970,54008,54108,122383,122385,129387,129750,133298],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:110","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Amyloidosis, renal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":40,"omia_phene_id":117,"omia_record_id":"OMIA:000040-9615","publication_ids":[28521,44684,67973,68080,70981,81017,84242,88694,112198,122343,122385],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:117","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Diamond-Blackfan anaemia, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":41,"omia_phene_id":119,"omia_record_id":"OMIA:000041-9615","publication_ids":[37387,111268,111269],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:119","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ankylosing spondylitis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":46,"omia_phene_id":125,"omia_record_id":"OMIA:000046-9615","publication_ids":[12496],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:125","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Taillessness","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":977,"omia_phene_id":130,"omia_record_id":"OMIA:000977-9615","publication_ids":[5685,108759,110723],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:130","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Aortic stenosis, subvalvular","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":52,"omia_phene_id":131,"omia_record_id":"OMIA:000052-9615","publication_ids":[10203,11786,46394,60764,71751,73537,75213,82267,83800,93174,93910,109903,109904,109905,109912,109922,110025,113593,114091,116136,116324,118049,120859,121601,122061,125307,126261,129007,133055],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:131","source_release":"retrieved-2026-09-12","summary":"\"Subvalvular aortic stenosis (SAS) is one of the most common congenital heart defects of dogs ... that can result in fainting, a shortened life span, or sudden death. ... The disease is characterized by obstruction of the left ventricular outflow tract, resulting in pressure overload on the left ventricle. The etiology of obstruction is a fibromuscular nodule, ridge, or ring of tissue that increases aortic outflow tract velocity.\" (Ontiveros and Stern, 2021) See also <a href=\"https://omia.org/OMIA000952/9615/\">OMIA:000952-9615</a> : Subaortic stenosis in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Aphakia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":54,"omia_phene_id":134,"omia_record_id":"OMIA:000054-9615","publication_ids":[8984],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:134","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Arthritis, rheumatoid","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":67,"omia_phene_id":149,"omia_record_id":"OMIA:000067-9615","publication_ids":[40667,43004,44063,59012,83182,87576],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:149","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Coton de Tulear (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200389"}],"characterised":true,"characterised_year":2011,"clinical_features":"\"Neurologic examination\" ... of 7 affected puppies ... \"revealed normal mental status, head titubation, intention tremors, and severe gait, stance, and ocular ataxia beginning at 2 weeks of age. One of the pups was able to walk with assistance, but most of the affected pups were unable to stand and used propulsive movements (‘‘swimming’’) for goal-oriented activities. They frequently would fall to lateral recumbency with subsequent decerebellate posturing and paddling. Ocular motor abnormalities included fine vertical tremors at rest and saccadic dysmetria. The condition was nonprogressive at least until 4 months of age.\" (Coates et al. 2002)","defect":true,"group_name":"Ataxia, cerebellar, neonatal, GRM1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013905","iri":"http://purl.obolibrary.org/obo/MONDO_0013905","label":"autosomal recessive spinocerebellar ataxia 13"}],"name":"Bandera's neonatal ataxia","omia_group_id":78,"omia_phene_id":170,"omia_record_id":"OMIA:000078-9615","publication_ids":[104983,110113,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:170","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the GRM1 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus, locus heterogeneity for this phenotype must be considered. The GRM1 associated canine disorder represents a model for spinocerebeallar ataxia, autosomal recessive 13 in humans (see MIM link above).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Atrial septal defect","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":89,"omia_phene_id":189,"omia_record_id":"OMIA:000089-9615","publication_ids":[28968,82712,101631,107444,108310,109907,113593,117631,120859,124103,125307,127131],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:189","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Autoimmune thrombocytopenia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"primary immune-mediated thrombocytopenia","omia_group_id":95,"omia_phene_id":199,"omia_record_id":"OMIA:000095-9615","publication_ids":[108818,111003,111006,115888,117303,124989,127554,127627],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:199","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Black hair follicular dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":110,"omia_phene_id":215,"omia_record_id":"OMIA:000110-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:215","source_release":"retrieved-2026-09-12","summary":"The canine-specific entry of black hair follicular dysplasia has been merged with <a href=\"https://omia.org/OMIA000031/9615/\">OMIA:000031-9615</a> : Coat colour, dilution, MLPH-related in Canis lupus familiaris on 23 Dec 2022.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Bleeding disorder","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":113,"omia_phene_id":220,"omia_record_id":"OMIA:000113-9615","publication_ids":[10075,28427,85251],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:220","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group systems, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":116,"omia_phene_id":230,"omia_record_id":"OMIA:000116-9615","publication_ids":[20660,28789,29397,29881,32752,37301,42268,45324,49902,50330,73776,120421,121350,122970],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:230","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Brachycephalic obstructive airway syndrome","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"BOAS","omia_group_id":145,"omia_phene_id":305,"omia_record_id":"OMIA:000145-9615","publication_ids":[10319,78431,109834,109836,109837,114412,114413,114627,115247,115248,115249,115250,115251,115252,115253,115254,115255,115256,115257,115258,115259,115260,115261,115265,116203,116323,116653,116957,116999,117104,117105,117134,117366,117506,117694,118823,120315,120416,120498,121263,121353,121411,122017,122133,123057,123102,123816,123925,124126,124169,124181,124222,124439,124574,124697,124993,125109,125194,125276,125546,126158,126197,126280,126297,126903,126963,127037,127073,127328,127330,127795,127818,128455,128485,128991,129158,129602,129834,129976,130046,130414,130808,130887,131064,132077,132199,132343,132410,132560,132749,132771,132808,132909,132927,133036,133051,133220,133323,133408],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:305","source_release":"retrieved-2026-09-12","summary":"Brachycephalic Obstructive Airway Syndrome (BOAS) is a condition where the animal's ability to breathe, as well as it's ability to engage in normal behaviours is impacted negatively due to brachycephaly (the shape of a skull is shorter than typical for its species). In dogs, narrowed nostrils (stenotic nares), elongated soft palate, enlarged tongue, and reduced diameter of the windpipe have been associated with the condition (Ekenstedt et al., 2023). Elongated soft palates have been reported in non-brachycephalic dogs (Himel et al., 2023).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Brachydactyly","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":146,"omia_phene_id":307,"omia_record_id":"OMIA:000146-9615","publication_ids":[110695,121411],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:307","source_release":"retrieved-2026-09-12","summary":"As described by Green (1957), this disorder is \"a recessive mutant which reduces the size and function of the outside toes on the front and sometimes the hind feet, with the result that the affected animals are really \"two-toed\" on those feet\".","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Australian Stumpy Tail Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200097"},{"name":"Austrian Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200103"},{"name":"Berger de Savoie Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200156"},{"name":"Braque du Bourbonnais (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200221"},{"name":"Brazilian Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200231"},{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"},{"name":"Croatian Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200392"},{"name":"Danish/swedish Farm Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0000663"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Donggyeongi, Republic of Korea (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0008063"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Karelian Bear Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200754"},{"name":"Mudi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200921"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Polish Lowland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201035"},{"name":"Pyrenean Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201117"},{"name":"Schipperke (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201184"},{"name":"Spanish Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201280"},{"name":"Swedish Vallhund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201316"}],"characterised":true,"characterised_year":2001,"clinical_features":"","defect":true,"group_name":"Tail, short","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"autosomal dominant; early embryonic lethal when homozygous","mondo_terms":[],"name":"bob-tail, bob tail","omia_group_id":975,"omia_phene_id":316,"omia_record_id":"OMIA:000975-9615","publication_ids":[916,4815,95618,108432,108758,108759,120501,124287,125165,125653,127724],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:316","source_release":"retrieved-2026-09-12","summary":"Short tails (also known as bob-tails) occur as single-locus traits in a number of dog breeds.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Cardigan Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200290"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Chesapeake Bay Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200326"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Coton de Tulear (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200389"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Toy (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201061"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":true,"characterised_year":2017,"clinical_features":"Batcher et al. (2019) concluded that \"The FGF4 retrogene on CFA12 acts in a dominant manner to decrease the age of onset and increase the overall risk of disc disease in dogs. Other modifiers of risk may be present within certain breeds, including the FGF4 retrogene on CFA18.\"\r\nIn Nova Scotia Duck Tolling Retrievers, Murphy et al. (2019) concluded that dogs with the retrogene variant present with clinical signs \"consistent with premature chondroid degeneration of the intervertebral disc and suggest that the presence of the CFA12 FGF4 retrogene is sufficient to cause the chondrodystrophic phenotype.\"","defect":true,"group_name":"Intervertebral disc disease, predisposition to","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Brown et al. (2017): \"IVDD-affected NSDTRs were also all either homozygous or heterozygous for the CFA12 FGF4 insertion. This supports the idea that while the CFA12 FGF4 insertion is semidominant with respect to height, it is dominant for altered IVDs\"\r\n Bannasch et al. (2022): \"Using individual measurements of height at the shoulder, back length, head width, thorax depth and width, and thoracic limb measurements, we evaluated the combined effects of FGF4 retrogenes [FGF4L1 and FGF4L2] within\" two breeds that segregate both retrogenes, namely Alpine Dachsbracke and the Schweizer Niederlaufhund. They found that \"both retrogenes had significant effects reducing height at the shoulders and antebrachial length, with FGF4L1 having a much greater effect than FGF4L2. FGF4L1 alone influenced the degree of carpal valgus and FGF4L2 alone increased head width. Neither retrogene had an effect on thorax width or depth.\" \r\nFrom a detailed analysis of 569 surgical cases of IVDD, Batcher et al. (2019) concluded that \"The FGF4 retrogene on CFA12 acts in a dominant manner to decrease the age of onset and increase the overall risk of disc disease in dogs. Other modifiers of risk may be present within certain breeds, including the FGF4 retrogene on CFA18.\"","mondo_terms":[],"name":"Intervertebral disc disease; Hansen type I / acute intervertebral disc extrusion","omia_group_id":157,"omia_phene_id":319,"omia_record_id":"OMIA:000157-9615","publication_ids":[3989,110476,110477,110484,110485,112579,112580,112986,112997,113157,114091,114241,114967,115586,116324,117087,117111,117136,117161,117314,117352,117420,117799,117800,117801,119355,119951,120869,121003,121080,122069,122493,122494,122802,123024,123130,123352,123353,123355,124081,124112,124521,124547,124704,124921,125087,125105,125435,125569,125570,125871,125945,125982,126280,126687,126689,126703,126864,126922,127186,127287,127697,127698,128012,128351,128475,128630,129074,129157,129482,129530,129592,129643,129989,130209,130218,130331,130667,130700,131164,132091,132333,132338,133380,133448,133534,133535,133564],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:319","source_release":"retrieved-2026-09-12","summary":"\"Two FGF4 retrogenes (FGF4L1 on chromosome 18 and FGF4L2 on chromosome 12) have been identified to cause dwarfism across many dog breeds. Some breeds are nearly homozygous for both retrogenes (e.g., Dachshunds) and others are homozygous for just one (e.g., Beagles and Scottish Terriers)\" (Bannasch et al., 2022)","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Calcinosis circumscripta","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":158,"omia_phene_id":320,"omia_record_id":"OMIA:000158-9615","publication_ids":[68647,73237,123767,123768],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:320","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cardiomyopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":160,"omia_phene_id":323,"omia_record_id":"OMIA:000160-9615","publication_ids":[9638,17668,56448,59548,64143,65838,68061,68199,68203,68537,72637,79564,82211,83292,84434,89225,89232,89938,91095,93534,98923,102720,106996,109899,109909,109919,121792,124467,124498,130187,132350],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:323","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Borzoi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200197"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Irish Wolfhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200706"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"},{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"},{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":false,"characterised_year":null,"clinical_features":"Clinical features of canine dilated cardiomyopathy (DCM) can have a sudden onset and often present secondary to diminished cardiac pumping function. This can manifest as decreased oxygenated blood delivery to the body (lethargy, weakness, exercise intolerance, collapse) or pulmonary blood congestion (coughing, tachypnoea, dyspnoea) (Tidholm and Jönsson, 1996). Radiographic evidence of ascites or pleural effusion, and pulmonary oedema, are also clinical features of DCM (Harmon et al., 2017). Echocardiography may reveal a systolic murmur and hypokinesis (Tidholm et al., 2001). [IT thanks DVM student Lexie Hunter, who provided the basis of this contribution in April 2022.]","defect":true,"group_name":"Cardiomyopathy, dilated","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"A juvenile form of this disorder, unique to Portugese water dogs, is autosomal recessive (Dambach et al., 1999; Alroy et al., 2000; Sleeper et al., 2002). In Doberman pinschers, Meurs et al. (2007) reported autosomal dominant inheritance with incomplete penetrance, which is, in effect, multifactorial inheritance (previously listed here incorrectly as recessive, corrected based on feeback from Lorène Massip [29/08/2025].&nbsp;Oertle et al. (2023) report a recessive form of the disease in Nova Scotia Duck Tolling Retrievers.","mondo_terms":[],"name":"Dilated cardiomyopathy","omia_group_id":162,"omia_phene_id":327,"omia_record_id":"OMIA:000162-9615","publication_ids":[25342,38776,53719,62126,68728,70603,70685,71943,75352,75604,77316,77433,78003,78315,79076,79133,79360,81102,81580,82710,85508,86118,86154,86838,86853,87417,87697,87712,88667,90566,92228,93925,95021,95034,95059,95479,96742,97759,98245,98536,98675,98809,98868,98919,99357,99405,99476,105606,107016,107090,107270,107271,107272,107296,107440,107448,107594,108288,108304,108321,108323,108331,108358,108359,108446,108812,108814,109438,109439,109457,109913,110027,110057,110201,112385,112519,112647,114042,114091,114962,115444,116324,116669,117028,117308,117367,117421,117917,118002,118049,118542,119093,119128,120409,120484,120790,120825,121121,121792,122070,122450,122523,122775,123248,123249,123250,123251,123252,123253,123254,123426,123917,124106,124168,124651,124739,125015,125165,125307,125393,125534,125589,125623,125624,125635,125767,125768,126159,126244,126245,126246,126247,126248,126249,126756,127008,127112,127469,128714,128883,129582,129817,130374,131145,132776,132890,133428,133431],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:327","source_release":"retrieved-2026-09-12","summary":"See also gene specific entries for dilated cardiomyopathy such as: '<a href=\"../../../../../../OMIA002365/9615/\">OMIA:002365-9615</a> Cardiomyopathy, dilated, RBM20-related', <a href=\"../../../../../../OMIA002195/9615/\">OMIA:002195-9615 </a>Cardiomyopathy, dilated, PLN-related', <a href=\"../../../../../../OMIA002796/9615/\">OMIA:002796-9615</a> : Cardiomyopathy, dilated, LMNA-related, and <a href=\"../../../../../../OMIA002710/9615/\">OMIA:002710-9615</a> : Cardiomyopathy, dilated, ABCC9-related","taxon_id":9615,"upheno_terms":[{"id":"HP:0001649","iri":"http://purl.obolibrary.org/obo/HP_0001649","label":"tachycardia"},{"id":"HP:0002094","iri":"http://purl.obolibrary.org/obo/HP_0002094","label":"dyspnea"},{"id":"HP:0003546","iri":"http://purl.obolibrary.org/obo/HP_0003546","label":"exercise intolerance"},{"id":"HP:0031658","iri":"http://purl.obolibrary.org/obo/HP_0031658","label":"third heart sound"},{"id":"MP:0001263","iri":"http://purl.obolibrary.org/obo/MP_0001263","label":"weight loss"},{"id":"MP:0001954","iri":"http://purl.obolibrary.org/obo/MP_0001954","label":"respiratory distress"},{"id":"MP:0002833","iri":"http://purl.obolibrary.org/obo/MP_0002833","label":"increase heart weight"},{"id":"MP:0005324","iri":"http://purl.obolibrary.org/obo/MP_0005324","label":"ascites"},{"id":"MP:0006138","iri":"http://purl.obolibrary.org/obo/MP_0006138","label":"congestive heart failure"},{"id":"MP:0031088","iri":"http://purl.obolibrary.org/obo/MP_0031088","label":"cough"},{"id":"MP:0031104","iri":"http://purl.obolibrary.org/obo/MP_0031104","label":"crackle"},{"id":"MP:0031302","iri":"http://purl.obolibrary.org/obo/MP_0031302","label":"syncope"}]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cardiovascular malformations","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":165,"omia_phene_id":331,"omia_record_id":"OMIA:000165-9615","publication_ids":[7720,8199,8268,10360,128156],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:331","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Carpal subluxation","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":166,"omia_phene_id":332,"omia_record_id":"OMIA:000166-9615","publication_ids":[7665],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:332","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cataract, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":168,"omia_phene_id":335,"omia_record_id":"OMIA:000168-9615","publication_ids":[37,942,1092,3486,3725,4054,6683,7220,7805,7950,8679,9066,9376,9463,20383,25053,30178,42402,52340,52616,63218,66659,78479,101938,104308,106922,106968,108060,108073,108315,108335,108343,108445,108705,108832,108846,109401,109402,109513,109516,109665,109806,109807,109809,109810,109811,109812,109813,109814,109815,109816,109817,109818,109819,109820,109821,109822,114091,115434,115686,116313,116317,116324,116340,116647,116801,117385,118028,118119,123876,125219,126600,127574,129746],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:335","source_release":"retrieved-2026-09-12","summary":"Forms of inherited cataract for which the genetic causes have been identified have been been described, for examples see '<a href=\"../../../../../../OMIA001758/9615/\">OMIA:001758-9615</a> : Cataract, early onset, HSF4-related' and <a href=\"../../../../../../OMIA002536/9615/\">OMIA:002536-9615</a> : Cataract, FYCO1-related","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cauda equina syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":170,"omia_phene_id":339,"omia_record_id":"OMIA:000170-9615","publication_ids":[40450,63834,75510,80343,82431,84709,87776,88965,89388,93494,99219,106981,107351,112424,112664,112665,112666,112667,112668,112669,114173,117422,117954],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:339","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Central core myopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":172,"omia_phene_id":340,"omia_record_id":"OMIA:000172-9615","publication_ids":[46440],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:340","source_release":"retrieved-2026-09-12","summary":"see also <a href=\"https://omia.org/OMIA001660/9615/\">OMIA:001660-9615</a> : Centronuclear myopathy 2, BIN1-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cerebellar Purkinje cell degeneration","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":174,"omia_phene_id":342,"omia_record_id":"OMIA:000174-9615","publication_ids":[47216,125285],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:342","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200090"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"Kerry Blue Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200764"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"},{"name":"Working Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201434"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cerebellar abiotrophy","inheritance":null,"inheritance_text":"Wade et al. (2022): \"Based on past breeding studies, pedigree analysis and segregation analysis, CA has been suspected or confirmed to have an autosomal recessive mode of inheritance in many of the affected dog breeds ... .\"","mondo_terms":[],"name":"cerebellar ataxia","omia_group_id":175,"omia_phene_id":343,"omia_record_id":"OMIA:000175-9615","publication_ids":[41201,61876,66613,92131,102950,109270,110225,110226,111657,112558,112559,116013,117815,117875,121459,123862,123883,123884,123885,123886,123887,125285,125290],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:343","source_release":"retrieved-2026-09-12","summary":"Cerebellar abiotrophy (CA) has been diagnosed in many dog breeds and different names have been used for the disease - please see separate entries in OMIA for CA diseases with known likely causal variants, e.g. <a href=\"../../../../../../OMIA002092/9615/\">OMIA:002092-9615</a> : Ataxia, spinocerebellar, SPTBN2-related in Canis lupus familiaris; <a href=\"../../../../../../OMIA002602/9615/\">OMIA:002602-9615</a> : Cerebellar abiotrophy, VMP1-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cerebellar hypoplasia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Knecht et al. (1979) provided evidence for autosomal recessive inheritance.","mondo_terms":[],"name":"","omia_group_id":179,"omia_phene_id":351,"omia_record_id":"OMIA:000179-9615","publication_ids":[106168,115894],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:351","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neuronal Ceroid Lipofuscinosis, generic","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Autosomal recessive (Koppang, 1973)","mondo_terms":[],"name":"Neuronal ceroid lipofuscinosis","omia_group_id":181,"omia_phene_id":357,"omia_record_id":"OMIA:000181-9615","publication_ids":[568,7163,8353,18501,28822,40556,40760,42111,49641,59332,59433,59446,66711,71279,72233,73031,79870,79871,93812,107156,107305,107328,107567,107568,108342,108549,109270,111406,113602,114724,114727,114728,114729,114730,114731,114732,114733,114734,114735,115447,117735,120540,122714,122722,132831],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:357","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chondrodysplasia, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":187,"omia_phene_id":372,"omia_record_id":"OMIA:000187-9615","publication_ids":[51912,124358],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:372","source_release":"retrieved-2026-09-12","summary":"Information previously listed here relating to chondrodysplasia related to FGF4 retrogenes has been moved to '<a href=\"https://omia.org/OMIA002542/9615/\">OMIA:002542-9615</a> : Chondrodysplasia, FGF4 retrogene-related in Canis lupus familiaris' [22/03/2022]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Pyrenean Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201113"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cleft palate","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":197,"omia_phene_id":389,"omia_record_id":"OMIA:000197-9615","publication_ids":[8289,53300,78920,112746,112747,112748,115540,115563,115564,115565,115567,117705,120073,123356,123357,124820,125689,127232],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:389","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Coat colour, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":200,"omia_phene_id":399,"omia_record_id":"OMIA:000200-9615","publication_ids":[8357,9414,9560,9660,9685,12750,12943,13476,15680,22131,24923,26917,32836,39004,47121,53471,61000,70182,87795,105728,108340,108341,121377,122051,123404,125979,129222],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:399","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2020,"clinical_features":"","defect":true,"group_name":"Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related","inheritance":null,"inheritance_text":"Bychkova et al. (2020): \"The proband’s mother, which is black-and-tan, is a heterozygous carrier of the c.230A allele [omia.variant:1247]\".","mondo_terms":[],"name":"Acromelanism; Himalayan coat color/colour","omia_group_id":202,"omia_phene_id":421,"omia_record_id":"OMIA:000202-9615","publication_ids":[103170,120945,122792,124017,128907],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:421","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Koolie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200091"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Cardigan Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200290"},{"name":"Catahoula Leopard Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200298"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Collie Rough (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200376"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Labradoodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200798"},{"name":"Miniature American Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200880"},{"name":"Miniature Australian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200881"},{"name":"Mudi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200921"},{"name":"Pyrenean Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201117"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Welsh Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201410"}],"characterised":true,"characterised_year":2006,"clinical_features":"As reported by Clark et al. (2006) (citing Sorsby and Davey, 1954), \"Dogs having Mm and MM genotypes typically have blue eyes and often exhibit a wide range of auditory and ophthalmologic abnormalities\" Strain et al. (2009) assessed a sample of 153 merle dogs from 10 breeds plus one mixed-breed dog and reported \"Deafness prevalence in merles overall was 4.6% unilaterally deaf and 4.6% bilaterally deaf. There was a significant association between hearing status and heterozygous versus homozygous merle genotype. For single merles (Mm), 2.7% were unilaterally deaf and 0.9% were bilaterally deaf. For double merles (MM), 10% were unilaterally deaf and 15% were bilaterally deaf. There was no significant association with eye color or sex.\"","defect":true,"group_name":"Coat colour, merle","inheritance":{"code":"AID","name":"Autosomal incomplete dominant"},"inheritance_text":"","mondo_terms":[],"name":"This is the classic M (Merle) locus (Little, 1957)","omia_group_id":211,"omia_phene_id":435,"omia_record_id":"OMIA:000211-9615","publication_ids":[4623,6735,7619,8012,15421,83190,83191,83192,83193,107054,107563,107799,109240,109241,109242,113200,113201,113202,113203,113204,113205,116840,117010,118078,118177,119927,119928,119929,119931,120804,121989,122792,124017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:435","source_release":"retrieved-2026-09-12","summary":"Varga et al. (2020): \"The intensity of the merle pattern is determined by the length of the poly(A) tail of a repeat element which has been inserted into the boundary of intron 10 and exon 11 of the PMEL17 locus in reverse orientation. This poly(A) tail behaves as a microsatellite, and due to replication slippage, longer and shorter alleles of it might be generated during cell divisions. The length of the poly(A) tail regulates the splicing mechanism. In the case of shorter tails, the removal of intron 10 takes place at the original splicing, resulting in a normal premelanosome protein (PMEL). Longer tails generate larger insertions, forcing splicing to a cryptic splice site, thereby coding for an abnormal PMEL protein, which is unable to form the normal fibrillar matrix of the eumelanosomes. Thus, eumelanin deposition ensuring the dark color formation is reduced. In summary, the longer the poly(A) tail, the lighter the coat color intensity of the melanocytes. These mutations can occur in the somatic cells and the resulting cell clones will shape the merle pattern of the coat. When they take place in the germ line, they occasionally produce offspring with unexpected color variations which are different from those of their parents.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Australian Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200090"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boykin Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200214"},{"name":"Chinook (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200353"},{"name":"Collie Rough (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200376"},{"name":"Collie Smooth (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200377"},{"name":"Hokkaido (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200671"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Koolie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200782"},{"name":"Lancashire Heeler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200808"},{"name":"Lapponian Herder (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200814"},{"name":"Long-Haired Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200833"},{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"},{"name":"Silken Windhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201235"},{"name":"Smithfield (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201256"},{"name":"Tamaskan Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201334"}],"characterised":true,"characterised_year":2007,"clinical_features":"CEA presents as varying levels of visual impairment, from no visual impairment to complete blindness. As summarised by Fredholm et al. (2016), \"Collie eye anomaly (CEA) is a congenital, inherited ocular disorder which is widespread in herding breeds. Clinically, the two major lesions associated with CEA are choroidal hypoplasia (CH) and coloboma, and both lesions are diagnosed based on ophthalmological examination\". Choroidal hypoplasia is noted as a defect in the ocular fundus temporal to the optic nerve, which can be detected during ophthalmoscopic exam. Some affected dogs have tortuous retinal vessels and multiple retinal folds. More severely affected dogs can develop retinal detachments leading to blindness. These dogs can also develop subretinal and preretinal neovascularization and intraocular hemorrhage (Lowe et al., 2003).","defect":true,"group_name":"Choroidal hypoplasia, NHEJ1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Colobomas only occur in dogs of four breeds (Collie, Border Collie, Australian Shepherd, and Shetland Sheepdog) that are homozygous for the likely causal mutation (Parker et al., 2007). Some affected dogs in these breeds have been observed to “go normal” later, most of which were homozygous for the likely causal mutation, but a small minority were heterozygous. This suggests other loci may have an effect on CEA expression, i.e. that the disorder is multifactorial.","mondo_terms":[],"name":"Collie eye anomaly; Collie eye defect, choroidal hypoplasia, Collie \r\nectasia syndrome, scleral ectasia syndrome","omia_group_id":218,"omia_phene_id":443,"omia_record_id":"OMIA:000218-9615","publication_ids":[2688,4630,6371,7454,8427,8546,9059,9080,9244,9303,9729,14085,23096,29202,83696,89128,89264,90936,101097,107397,107778,107779,107780,108235,109352,109353,109355,109823,109824,109825,109826,109827,109828,109829,109830,112004,112584,116792,116840,117688,118018,118914,120434,121193,122523,123103,123262,123263,123264,123265,123267,123269,123270,124287,125219,126405,129719,130017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:443","source_release":"retrieved-2026-09-12","summary":"Collie eye anomaly (CEA) is a complex developmental defect of the posterior segment of the eye characterized by choroid hypoplasia. Malformations are present at birth and may include inadequate development of the choroid (choroidal hypoplasia), defects of the choroid, sclera, and/or optic nerve (coloboma/staphyloma), and complete retinal detachment (with or without hemorrhage). Mildly affected animals will have no detectable vision deficit. (Genetics Committee of the American College of Veterinary Opthalmologists, 2021).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Keeshond (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200759"}],"characterised":false,"characterised_year":null,"clinical_features":"Clinical signs include exercise intolerance with cyanosis and a systolic murmur.  Radiographs may show reduced circulation in the pulmonary vessels along with right ventricular hypertrophy. Diagnosis can be obtained by echocardiogram or angiogram. ","defect":true,"group_name":"Conotruncal heart malformations","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Conotruncal defects are inherited as a complex trait in the Keeshond, involving multiple loci and environmental influences (Werner et al., 2005).","mondo_terms":[],"name":"","omia_group_id":224,"omia_phene_id":451,"omia_record_id":"OMIA:000224-9615","publication_ids":[3442,7845,36652,87455,106918,110023,110024],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:451","source_release":"retrieved-2026-09-12","summary":"Conotruncal defects are a type of congenital heart defect characterized by abnormal formation and union of the endocardial cushions that normally divide the atrioventricular canal during development. The severity of the defect can vary from subclinical to life threatening. Clinical signs include exercise intolerance, cyanosis, and a systolic murmur. \r\n\r\nEdited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cor triatriatum dexter","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":227,"omia_phene_id":454,"omia_record_id":"OMIA:000227-9615","publication_ids":[19284,38883,46805,47120,86430,89316,92127,95642,105801,108808,117115,117307,129433],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:454","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Corneal dermoid","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":229,"omia_phene_id":456,"omia_record_id":"OMIA:000229-9615","publication_ids":[49340],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:456","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"German Wirehaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200602"},{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Corneal dystrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":230,"omia_phene_id":458,"omia_record_id":"OMIA:000230-9615","publication_ids":[17892,117994,121093,121098,121099,121100,125219,129746],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:458","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists (2021): \"non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers (epithelium, stroma, endothelium). The term dystrophy implies an inherited condition. It is usually bilateral although not necessarily symmetrical and the onset in one eye may precede the other.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Coxofemoral dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":233,"omia_phene_id":461,"omia_record_id":"OMIA:000233-9615","publication_ids":[71765],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:461","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Coxofemoral luxation","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":234,"omia_phene_id":462,"omia_record_id":"OMIA:000234-9615","publication_ids":[30693,92470,132591],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:462","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Airedale Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200008"},{"name":"Akita (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200010"},{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"Australian Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200098"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Bull Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200253"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Curly Coated Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200397"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"German Wirehaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200602"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Pyrenean Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201113"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Craniomandibular osteopathy, generic","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Padgett and Mostosky (1965) concluded autosomal recessive inheritance in the West Highland White terrier breed. Vagt and Distl (2108) reported evidence for multifactorial inheritance of this disorder in the Deutsch Drahthaar breed.","mondo_terms":[],"name":"","omia_group_id":236,"omia_phene_id":465,"omia_record_id":"OMIA:000236-9615","publication_ids":[60462,60624,81204,102023,115090,115091,115092,115093,115096,115097,115098,115099,115100,115101,115102,115103,115104,115105,115106,117894,120448],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:465","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cranioschisis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":237,"omia_phene_id":466,"omia_record_id":"OMIA:000237-9615","publication_ids":[9921],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:466","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":false,"characterised_year":null,"clinical_features":"Undescended testes may be located anywhere from the caudal pole of the kidney to the inguinal canal, or outside of the canal but cranial to the scrotum (Meyers-Wallen, 2011). Canine testes normally pass through the inguinal canal within 10 days after birth (Gier and Marion, 1969), but scrotal testes are not easily palpable in neonates. Dogs can be considered cryptorchid if one or both testes are not palpable in the scrotum by 6 to 8 weeks of age (Meyers-Wallen, 2011). Later testis descent can occur, and is more common with unilaterally cryptorchid dogs (Dunn et al., 1968).","defect":true,"group_name":"Cryptorchidism","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Inheritance of this condition is recessive and polygenic, with contributions from epigenetic and environmental factors (Zhao et al., 2010).","mondo_terms":[{"id":"MONDO:0009047","iri":"http://purl.obolibrary.org/obo/MONDO_0009047","label":"cryptorchidism"}],"name":"","omia_group_id":243,"omia_phene_id":475,"omia_record_id":"OMIA:000243-9615","publication_ids":[1620,7097,7151,8304,9123,9497,9628,17736,30478,35179,39071,39603,51923,60160,66707,99036,104021,109459,109515,109565,109910,110531,110532,110533,110535,111421,111595,111596,112596,112597,115276,115277,119166,120835,122620,122639,122719,123041,123351,124947,125476,125496,126786,126890,127538,128598,128644,129336,130390,130421,130849,132573,132871,133133],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:475","source_release":"retrieved-2026-09-12","summary":"Cryptorchidism is characterized by the presence of one or two undescended testes in an otherwise phenotypically normal male (isolated cryptorchidism). Canine cryptorchidism is common in the dog population as a whole, with high prevalence in some breeds. Undescended testes have an increased risk of developing neoplasia. Breeding of affected dogs is discouraged. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT, modified by Imke Tammen [28/09/2023]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cushing syndrome, ACTH-dependent, pituitary-dependent hyperadrenocorticism","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":247,"omia_phene_id":486,"omia_record_id":"OMIA:000247-9615","publication_ids":[45560,47977,52316,57557,65010,72331,81835,83026,83107,83590,93074,95857,96362,96648,98135,98169,106972,108074,110187,117106,122465,122653,124365,126499,126510,128689,129077,130648,133535],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:486","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2003,"clinical_features":"Clinical signs are associated with severe neutropenia, and include recurrent fever, anorexia, and severe infections, which can be life threatening (Dale et al., 1972, Pacheco et al., 2008). Affected animals have an associated coat color dilution, producing a gray coat color.","defect":true,"group_name":"Neutropenia, cyclic","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Grey Collie Syndrome; Gray Collie Syndrome","omia_group_id":248,"omia_phene_id":487,"omia_record_id":"OMIA:000248-9615","publication_ids":[2505,4008,4009,7296,7391,7833,7836,8535,9191,9350,9414,9518,26815,61591,66745,106220,106537,107084,107218,109399,110455,123453,123454,123455,123456,123457,123458,123459,123460,123461,123462,123463,123464,123465,123466,123467,123468,123469,123470,123471,123472,123473,123474,123475,123476,123477,123478,123479,123480,123481,123482,123483,123484,123485,123486,123487,123488,123489,123490,123491,123492,123493,123494,123495,123496,123497,123498,123499,123500,123501,123502,123503,123504,123505,123506,123507,123508,123509,123510,123511,123512,123513,123514,123515,125867,127727],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:487","source_release":"retrieved-2026-09-12","summary":"Cyclic neutropenia, also known as cyclic hematopoiesis or Grey/Gray Collie Syndrome, is characterized by cyclic fluctuations in the numbers of leucocytes, particularly neutrophils. Affected animals have an associated coat color dilution, producing a gray coat color. Affected dogs have cyclic reductions in leucocyte numbers, particularly neutrophils, which are associated with recurrent fever, anorexia, and severe infections, often life threatening. The mode of inheritance is autosomal recessive. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cystic bone lesions","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":251,"omia_phene_id":491,"omia_record_id":"OMIA:000251-9615","publication_ids":[6550,111222],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:491","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Landseer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200809"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"}],"characterised":true,"characterised_year":2000,"clinical_features":"Presenting signs include recurrent cystitis, hematuria, and stranguria. Calculi may become lodged in the urinary bladder, urethra, or kidney, causing partial or complete urinary blockage, which can result in renal failure (Brons et al., 2013). A relatively earlier age of onset has been identified in Newfoundlands compared to other breeds that develop cystinuria. Diagnosis is achieved by identifying characteristically hexagonal cystine crystals in urine sediment, or cystine calculi in stone analysis.  Metabolic screening tests on urine (cyanide nitroprusside test, amino acid chromatography or amino acid quantification) can detect cystinuria before or after clinical onset. Since cystine easily precipitates in acidic urine to form uroliths, treatment includes alkalinization of the urine, high fluid intake, and drugs that increase cystine solubility (Harnevik et al., 2006).\r\nAs summarised by Brons et al. (2013), Cystinuria type I - A is characterised by: occurs in males and females; not androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≥8,000 in homozygotes and ≤500 in heterozygotes.","defect":true,"group_name":"Cystinuria, type I - A","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"The mode of inheritance in Newfoundlands is autosomal recessive (Casal et al., 1995). The Labrador genotyping results of Brons et al. (2013) implied autosomal recessive inheritance in that breed. Genotyping results in English Bulldogs also suggest a recessive mode of inheritance (Harnevik et al. 2006; Ruggerone et al., 2016; Fitzwilliams et al., 2023).","mondo_terms":[],"name":"Cystine urolithiasis","omia_group_id":256,"omia_phene_id":497,"omia_record_id":"OMIA:000256-9615","publication_ids":[7475,9472,39779,40502,40576,64223,85144,94347,98840,110092,110471,110472,114892,114893,123132,124480,124481,125653,129822],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:497","source_release":"retrieved-2026-09-12","summary":"Cystinuria, type 1 - A is an inherited defect that causes failure of reabsorption of cystine in the proximal renal tubule, leading to cystine precipitation in the urine. Formation of crystals and calculi lead to urolithiasis and urinary tract obstruction. The disorder is inherited as an autosomal recessive trait and it is caused by a mutation in SLC3A1. \r\n\r\nEdited by Dr. Paula Henthorn (modified by IT 23/5/2022 and 29/3/2023)","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200255"},{"name":"Catahoula Leopard Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200298"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Dogo Argentino (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200445"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"English Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200495"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Deafness, generic","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Lewis et al. (2020): \"Heritability of CSD was approximately 0.3 (across models) and significantly &gt;0. Genetic correlations between CSD and blue irises (+0.6) and pigmented head patch (-0.86) were large in magnitude and significantly different form 0.\"","mondo_terms":[],"name":"Congenital sensorineural deafness","omia_group_id":259,"omia_phene_id":502,"omia_record_id":"OMIA:000259-9615","publication_ids":[1351,1508,7644,8583,9329,26151,28382,28393,46090,46690,47121,65182,69763,71026,77049,77069,82147,83720,86065,87345,87795,90904,91168,92267,101480,105630,107160,107256,107300,107406,107416,108319,109241,109242,109278,109520,109522,109523,109589,113443,113444,113445,113446,115375,115462,118015,119930,120788,120872,120881,121004,121815,121865,122672,123363,123364,123636],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:502","source_release":"retrieved-2026-09-12","summary":"This entry focuses on congenital sensorineural deafness for which likely causal variants have so far not been identified. Several other forms of deafness in dogs have a Mendelian mode of inheritance and likely causal variants have been identified, some examples include '<a href=\"https://omia.org/OMIA002550/9615/\">OMIA:002550-9615</a> : Deafness, EPS8L2-related'; '<a href=\"https://omia.org/OMIA002336/9615/\">OMIA:002336-9615</a> : Deafness, LOXHD1-related'; '<a href=\"https://omia.org/OMIA002326/9615/\">OMIA:002326-9615</a> : Deafness, KLF7-related'; '<a href=\"https://omia.org/OMIA002148/9615/\">OMIA:002148-9615</a> : Deafness, bilateral, and vestibular dysfunction'; '<a href=\"https://omia.org/OMIA002196/9615/\">OMIA:002196-9615</a> : Deafness, unilateral and vestibular dysfunction'. A separate entry provides information for deafness with adult onset: '<a href=\"https://omia.org/OMIA001727/9615/\">OMIA:001727-9615</a> : Deafness, adult-onset'.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"American Eskimo Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200046"},{"name":"American Water Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200059"},{"name":"Anatolian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200062"},{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"},{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Bloodhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200175"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Borzoi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200197"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Briard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200234"},{"name":"Canaan Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200274"},{"name":"Cardigan Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200290"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Chesapeake Bay Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200326"},{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Collie Rough (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200376"},{"name":"Coton de Tulear (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200389"},{"name":"Czechoslovakian Wolfdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200402"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"English Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200492"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"},{"name":"Hovawart (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200674"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Irish Wolfhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200706"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Kerry Blue Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200764"},{"name":"Komondor (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200779"},{"name":"Kuvasz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200793"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"},{"name":"Norwich Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200962"},{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"},{"name":"Poodle, Toy (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201061"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Puli (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201102"},{"name":"Rat Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201125"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"},{"name":"Romanian Mioritic Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201141"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Shiloh Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201226"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"},{"name":"Soft Coated Wheaten Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201260"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"},{"name":"Tamaskan Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201334"},{"name":"Tenterfield Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201342"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"},{"name":"Welsh Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201412"},{"name":"White Swiss Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201423"},{"name":"Wire Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201424"}],"characterised":true,"characterised_year":2009,"clinical_features":"Most dogs are at least 8 years of age at the onset of clinical signs, which include hyporeflexia, upper motor neuron proprioceptive spasticity and ataxia in the pelvic limbs. Widespread limb muscle atrophy can be observed and the disease progresses to paraplegia and eventually flaccid tetraparesis (Awano et al., 2009). Hyperesthesia, cranial nerve signs (e.g. difficulty in swallowing and barking), urinary and fecal incontinence (Coates et al., 2010) can be observed and in final stages of the disease respiratory muscles fail (Nardone et al., 2016). There is no effective treatment. [IT thanks DVM student Jane Lai for contributions to this entry in April 2022].","defect":true,"group_name":"Degenerative myelopathy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Canine degenerative myelopathy, hereditary canine spinal muscular atrophy","omia_group_id":263,"omia_phene_id":506,"omia_record_id":"OMIA:000263-9615","publication_ids":[45487,100311,103651,108312,108760,109363,109901,111881,113595,113603,113833,114546,114854,114989,115366,115433,115512,115551,116329,116695,116840,117201,117364,117669,117699,119366,119471,120377,120540,120880,121023,121191,121818,121866,122054,122523,122898,123033,123182,123443,124066,124287,124745,124888,124906,125503,125538,125653,125694,125892,126503,126702,128324,128458,128697,129211,129321,129323,129326,129893,129989,130085,130405,130739,132444,132519,132575,132801,132814,133306,133351],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:506","source_release":"retrieved-2026-09-12","summary":"This is an adult onset degeneration of the spinal cord that progresses to paraplegia and tetraparesis. There is no successful treatment. A genetic test is available. A different mutation in the SOD1 gene causes an early onset disease: <a href=\"../../../../../../OMIA002322/9615/\">OMIA:002322-9615</a> : Dyskinesia, paroxysmal, SOD1-related in Canis lupus familiaris.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Degenerative myopathy of obturator-externus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":265,"omia_phene_id":508,"omia_record_id":"OMIA:000265-9615","publication_ids":[39404],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:508","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200258"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":false,"characterised_year":null,"clinical_features":"Clinical and other issues relating to this disorder were comprehensively covered in an extensive series of papers published in Veterinary Immunology and Immunopathology in 2001 (all included in the references below) by the ACVD task force on canine atopic dermatitis.","defect":true,"group_name":"Dermatitis, atopic","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Shaw et al. (2004) estimated the heritability of CAD (as a binary trait) to be 0.47 in Golden and Labrador Retrievers.","mondo_terms":[],"name":"Canine atopic dermatitis (CAD)","omia_group_id":269,"omia_phene_id":512,"omia_record_id":"OMIA:000269-9615","publication_ids":[45988,70255,77390,79051,81874,84902,89313,89529,91531,92519,92782,98736,98933,99065,99140,99482,100139,100150,100152,100460,100466,100472,100752,100895,101129,101407,101465,101674,101719,102091,102167,103217,103407,106149,106187,106921,106931,106956,106983,106985,107004,107238,107321,107468,108474,109370,109441,109449,109470,109680,110301,110528,110545,112221,112447,112963,113241,113242,113483,113484,113485,113486,113487,113488,113489,113490,113491,113492,113565,113763,113817,113966,113971,113972,113973,113974,113975,113976,113977,113978,113979,113980,113981,113982,113983,113984,113985,113986,113987,113988,113989,113990,113991,113992,113993,113994,113995,113996,113997,113998,113999,114000,114001,114002,114003,114023,114080,114190,114213,114246,114248,114374,114691,114692,114708,114899,114939,115427,115428,115493,115518,115842,115880,115899,115900,115901,115902,115903,115904,115905,115906,115907,115908,115909,115943,115944,116262,116282,116289,116402,116710,116754,116760,116848,116937,117137,117138,117344,117374,117877,118859,119249,120380,120629,120813,120848,121660,121935,122235,122248,122310,122525,122864,122995,123022,123945,124080,124109,124267,124406,124455,124605,124884,125493,125521,125526,125854,126080,126131,126351,126383,126384,126476,126913,126953,127128,127394,127509,127751,127764,128255,128418,128515,128938,128939,129142,129257,129364,130068,130132,130296,130568,130606,130767,130788,130805,131042,131159,132118,132446,132549,132704,132777,132790,133151,133232,133419,133535,133538],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:512","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dermatomyositis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":270,"omia_phene_id":513,"omia_record_id":"OMIA:000270-9615","publication_ids":[10672,31741,31948,32137,79356,91093,107578,116722,117614],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:513","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chow Chow (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200361"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Italian Cane Corso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200712"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"},{"name":"Thai Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201348"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2007,"clinical_features":"","defect":true,"group_name":"Dermoid sinus","inheritance":null,"inheritance_text":"\"[T]he ridge trait [in Rhodesian Ridgeback dogs] is inherited in a dominant fashion; thus a single copy of this duplication results in appearance of a ridge, and dogs with two copies of the duplication are indistinguishable from dogs with one copy\" (Waldo and Diaz, 2015) Homozygotes for the Ridge allele are more likely to also have a dermoid sinus (Salmon Hillbertz et al., 2007). Inheritance of dermoid sinuses in other breeds is less well documented.","mondo_terms":[],"name":"ridge; hair ridge; dermoid cyst","omia_group_id":272,"omia_phene_id":515,"omia_record_id":"OMIA:000272-9615","publication_ids":[6197,9838,40863,58304,84256,86221,93489,108243,108246,109590,109591,109592,109593,109595,109596,109597,109598,109599,116328,123043,123125,123203,123204,123600,123673,126316,127694],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:515","source_release":"retrieved-2026-09-12","summary":"Dermoid sinuses and cysts have been described in dogs from several breeds. Hillbertz and Andersson (2006) reported that in the Rhodesian ridgeback population, dogs with the autosomal dominant ridge are predisposed to dermoid sinuses. Salmon Hillbertz et al. (2007) identified the causative mutation for the autosomal dominant dorsal hair ridge in Rhodesian and Thai Ridgeback dogs and proposed that \"the mutation predisposes to dermoid sinus with low penetrance in duplication heterozygotes and with high penetrance in homozygotes.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal detachment","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":275,"omia_phene_id":518,"omia_record_id":"OMIA:000275-9615","publication_ids":[110604,125219],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:518","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists (2021): Retinal detachment is \"a separation of the neurosensory retina from the retinal pigment epithelium.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Diabetes","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":277,"omia_phene_id":521,"omia_record_id":"OMIA:000277-9615","publication_ids":[19065,40122,43912,43992,45307,45514,49501,51677,52359,66115,66868,66980,73557,74206,78143,78144,78289,79217,79755,82324,84694,87839,89178,90479,92176,93623,100464,100573,100650,101908,101964,117317,117393,123072,126582],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:521","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Diabetes insipidus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":278,"omia_phene_id":524,"omia_record_id":"OMIA:000278-9615","publication_ids":[18005,51166,60791,61391,62106,71231,84575,86739,88785,89658,102634],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:524","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Diabetes mellitus","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"In a textbook example of investigating the heritability and mode of inheritance of a disorder, Cai et al. (2019) estimated heritability of diabetes mellitus (DM) in American Eskimo Dogs (AED) to be 0.62 (95% posterior interval 0.01-0.99) and the mode of inheritance to be \"polygenic, with no evidence for a single gene of large effect.\" The low precision of the heritability estimate is due to the relatively small numbers of animals available, namely \"71 AED without DM, 47 AED with an unknown phenotype, and 38 AED with spontaneous DM\".\r\nIn another textbook example of investigating the heritability and mode of inheritance of a disorder, Mui et al. (2020) reported that \"Heritability of diabetes in Australian Terriers was estimated at 0.18 (95% confidence interval 0.0-0.67). There was no significant difference in the effect of males and females on disease outcome. Complex segregation analysis suggested that the mode of diabetes inheritance in Australian Terriers is polygenic, with no evidence for a large effect single gene influencing diabetes.\"","mondo_terms":[],"name":"","omia_group_id":279,"omia_phene_id":527,"omia_record_id":"OMIA:000279-9615","publication_ids":[7951,11036,12372,14698,36597,43489,48608,52951,59100,59102,59108,59180,59262,59383,59784,60242,62856,63784,65081,67447,68499,69054,72227,73202,75760,76768,77278,80927,81135,81552,81873,83198,86875,87336,88981,89310,89829,90293,91840,91992,93855,94805,97054,100891,101924,101963,101966,101974,102597,102627,103066,103285,103430,104530,104685,106137,106164,106933,107001,107092,107193,107200,107202,107579,107607,107618,108329,108330,108332,109757,109758,114166,116331,116872,117853,120054,120359,120477,120884,120885,120886,120965,121348,121362,121378,121379,122427,123106,123554,123839,124218,124253,124294,124296,124365,124368,124432,124536,124549,124590,124599,125366,126876,127209,128318,128959,132082,133000,133112],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:527","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dwarfism, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":299,"omia_phene_id":551,"omia_record_id":"OMIA:000299-9615","publication_ids":[8195,8381,9781,32048],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:551","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dwarfism with anaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":300,"omia_phene_id":560,"omia_record_id":"OMIA:000300-9615","publication_ids":[944,5075,7944,8364,129498],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:560","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Ocular-skeletal dysplasia (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":301,"omia_phene_id":561,"omia_record_id":"OMIA:000301-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:561","source_release":"retrieved-2026-09-12","summary":"Redundant phene, retained for data consistency. References previously listed here have been moved to &nbsp;<a href=\"https://www.omia.org/OMIA001522/9615/\">OMIA:001522-9615</a>&nbsp;: Oculoskeletal dysplasia 1 and <a href=\"../../../../../../OMIA001523/9615/\">OMIA:001523-9615</a> : Oculoskeletal dysplasia 2 [25/05/204]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Czechoslovakian Wolfdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200402"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Karelian Bear Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200754"},{"name":"Saarloos Wolfhond (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201158"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pituitary hormone deficiency, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":307,"omia_phene_id":569,"omia_record_id":"OMIA:000307-9615","publication_ids":[1923,4820,4897,5126,7889,7941,8062,9417,9779,10249,23058,43934,79132,80283,87325,89030,91807,92229,100988,106414,110440,110441,110442,110443,111881,111882,111883,111884,111885,112875,112876,112884,116379,120665,121208],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:569","source_release":"retrieved-2026-09-12","summary":"see also OMIA entries that refer to gene-relaed forms of pituitary dwarfism, e.g.&nbsp; <a href=\"https://omia.org/OMIA002315/9615/\">OMIA:002315-9615 </a>: Dwarfism, pituitary, POU1F1-related in Canis lupus familiaris and <a href=\"https://omia.org/OMIA002314/9615/\">OMIA:002314-9615</a> : Dwarfism, pituitary, LHX3-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ectropion","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":325,"omia_phene_id":590,"omia_record_id":"OMIA:000325-9615","publication_ids":[62895,81103,117385,125219,130253],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:590","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists (2021): Ecrtopion is \"a conformational defect resulting in eversion of the eyelid margin, which may cause ocular irritation due to exposure. It is likely that ectropion is influenced by several factors defining the skin and other structures, which make up the eyelids, orbital contents, and conformation of the skull.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Elbow disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":329,"omia_phene_id":596,"omia_record_id":"OMIA:000329-9615","publication_ids":[10830,22805,51670,58162,58246,67817,71901,72054,73869,117519,122033,122674,122955,123938],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:596","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Elbow dysplasia","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Baers et al. (2019) conducted a quantitative genetic analysis of \"elbow data from 130,117 dogs over 2 years old representing 17 breeds . . . obtained from the database of the Orthopedic Foundation for Animals\". They reported \"Heritability estimates for unilateral elbow dysplasia varied between breeds (ranging from 0.01 to 0.36) and were similar between the left and right elbows. The estimated genetic correlation between disease in the left and right elbow ~1 in the majority of breeds\".","mondo_terms":[],"name":"","omia_group_id":330,"omia_phene_id":597,"omia_record_id":"OMIA:000330-9615","publication_ids":[7291,37760,43478,46755,51584,69748,70386,71901,76593,78785,80235,80310,80341,80815,80848,82918,83180,86152,87418,88017,88825,91314,91480,92229,92870,94700,98575,102450,107096,107571,107620,108322,108434,108607,108612,108614,108616,108633,108937,108939,108942,108943,109403,109414,109455,109496,109843,109844,109846,109851,109852,109856,109858,109860,109863,109889,110110,110246,110248,110260,112091,112258,112907,113155,113560,113589,114041,114091,114165,114173,115026,115120,115537,116324,116373,116374,116613,116788,117627,118049,118096,118117,118821,119015,120408,120444,122333,123360,124836,125025,126291,127176,128407,128835,131154,132113,132439,133361],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:597","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Elbow luxation","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":331,"omia_phene_id":598,"omia_record_id":"OMIA:000331-9615","publication_ids":[36865,71901,85671,94225,107243,124508],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:598","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Elbow subluxation","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":332,"omia_phene_id":599,"omia_record_id":"OMIA:000332-9615","publication_ids":[45248,71901],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:599","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Endotoxin shock","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":336,"omia_phene_id":603,"omia_record_id":"OMIA:000336-9615","publication_ids":[34500],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:603","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Anatolian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200062"},{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Entropion","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":337,"omia_phene_id":604,"omia_record_id":"OMIA:000337-9615","publication_ids":[16259,62895,86263,116313,117385,118026,118027,118028,124280,124441,125219,126554,126596,126600,126602,130253,130795,130797],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:604","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists (2021): Entropion is \"a conformational defect resulting in inversion of the eyelid margin which may cause ocular irritation. It is likely that entropion is influenced by several factors defining the skin and other structures, which make up the eyelids, orbital contents, and conformation of the skull.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Drentsche Patrijshond (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200453"},{"name":"Finnish Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200526"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Petit Basset Griffon Vendeen (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201009"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Epilepsy","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Viitmaa et al. (2013) estimated the heritability of idiopathic epliepsy in Finnish Spitz dogs to be 22%.","mondo_terms":[],"name":"","omia_group_id":344,"omia_phene_id":619,"omia_record_id":"OMIA:000344-9615","publication_ids":[6477,7420,7649,8966,9111,9754,9755,17995,44471,58385,63354,66764,68834,69646,71364,72213,74315,74317,76563,79694,79699,81757,81765,81883,85119,85502,86150,86486,86987,87225,87793,87874,88459,89359,89702,90183,91200,91716,93013,93382,99454,99474,100384,101331,102289,105447,106966,107175,107460,107591,107684,107955,108797,108811,109204,109329,109330,109331,109332,109333,109334,109908,109910,110168,110232,110307,110446,110544,110789,110790,111255,111842,111895,112158,112188,112387,112388,112473,112551,112659,112676,112951,113475,113760,113799,113907,113909,113914,114033,114091,114160,114169,114171,114376,114664,114781,114855,114955,114966,114990,115345,115353,115403,115406,115429,115445,115494,115495,115526,115595,115797,115890,115984,116033,116114,116208,116284,116285,116305,116324,116374,116806,117301,117388,117969,118049,120020,121073,121074,121724,121988,122165,123616,123871,123984,124129,124224,124356,124366,124377,124378,124447,124448,124846,124874,125084,125347,125605,125627,126169,126495,126496,126606,126607,126794,126796,127168,127765,127977,128428,128554,128646,128764,128897,129056,129445,129567,129927,130138,130598,130872,130874,132805,133034,133037,133069,133180,133231],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:619","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Exostoses, multiple","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":354,"omia_phene_id":634,"omia_record_id":"OMIA:000354-9615","publication_ids":[64237,114669,115096],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:634","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Eye defects","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":358,"omia_phene_id":641,"omia_record_id":"OMIA:000358-9615","publication_ids":[9081,29072,29162,60367,64394,71064,73053,73086,73700,83686,83911,86445,102459,124124,124207,124212,125219,126748,129745,132488],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:641","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Airedale Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200008"},{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Alaskan Klee Kai (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200016"},{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"American Foxhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200047"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Catahoula Leopard Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200298"},{"name":"Dachshund, Miniature Smooth-Haired (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200410"},{"name":"English Foxhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200490"},{"name":"Finnish Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200522"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"German Wirehaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200602"},{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"},{"name":"Harrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200660"},{"name":"Irish Water Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200705"},{"name":"Japanese Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200740"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Papillon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200985"},{"name":"Redbone Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201132"},{"name":"Scottish Deerhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201195"},{"name":"Sealyham Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201200"},{"name":"Welsh Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201411"},{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"}],"characterised":true,"characterised_year":2005,"clinical_features":"Ramirez et al. (2019) report that the disease results in mild to moderate bleeding propensity, but in most cases it is identified by chance when regular coagulation screenings result in extended prothrombin times (PT). Kaae et al. (2008) report that clinical presentation includes subcutaneous hematoma formation, blood loss anemia, and a history of abnormal bleeding. IT thanks DVM student Rami Mazraani, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Factor VII deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009211","iri":"http://purl.obolibrary.org/obo/MONDO_0009211","label":"congenital factor VII deficiency"}],"name":"","omia_group_id":361,"omia_phene_id":647,"omia_record_id":"OMIA:000361-9615","publication_ids":[6053,31342,43824,74575,86400,93115,93116,93117,93118,93119,93120,105762,107768,107772,108225,108324,109093,109456,111187,111188,111189,111190,111191,111192,111193,111194,111195,111196,111880,113184,114828,116893,117470,117787,118018,119105,122523,123452,124163,130426],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:647","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Factor X deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":362,"omia_phene_id":648,"omia_record_id":"OMIA:000362-9615","publication_ids":[111175,112328,112329,112331,113184,116844],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:648","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"},{"name":"Kerry Blue Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200764"}],"characterised":true,"characterised_year":2007,"clinical_features":"Congenital Factor XI deficiency is characterised by abnormal haemostasis and excessive bleeding, usually following trauma or surgery. Clinical signs of abnormal haemostasis and excessive bleeding include bruising, epistaxis, and menorrhagia (Fogh and Fogh, 1988). Affected dogs have significantly decreased Factor XI activity levels (less than 10%), heterozygous/carrier dogs have decreased Factor XI activity levels, (25-50%) but appear to be asymptomatic (Fogh and Fogh, 1988).\r\n\r\nIT thanks DVM student Su Han Thia, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Factor XI deficiency","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012897","iri":"http://purl.obolibrary.org/obo/MONDO_0012897","label":"congenital factor XI deficiency"}],"name":"","omia_group_id":363,"omia_phene_id":650,"omia_record_id":"OMIA:000363-9615","publication_ids":[54352,107769,110461,113184,114828,123444,124795],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:650","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Factor XII deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009315","iri":"http://purl.obolibrary.org/obo/MONDO_0009315","label":"congenital factor XII deficiency"}],"name":"","omia_group_id":364,"omia_phene_id":653,"omia_record_id":"OMIA:000364-9615","publication_ids":[23152,94237,111181,113184,114828,122436],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:653","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Border Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200194"},{"name":"Irish Wolfhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200706"},{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"},{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Fanconi syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":366,"omia_phene_id":655,"omia_record_id":"OMIA:000366-9615","publication_ids":[527,44006,54294,60994,71284,110073,110074,110078,110079,112124,112125,115922,115923,117927,122095,124801,127710,127711],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:655","source_release":"retrieved-2026-09-12","summary":"Fanconi syndrome is a proximal renal tubular defect affecting the resorption of various substances filtered by the glomeruli. In addition to genetic forms, acquired proximal renal tubulopathies are also called Fanconi syndrome and have been reported in dogs to be related to excessive ingestion of jerky treats, gentamicin therapy, primary hypoparathyroidism, ethylene glycol toxicity, presumed pyelonephritis and copper storage hepatopathy. This entry lists references to (suspected) genetic and acquired forms of the disease. Information relating to inherited Fanconi Syndrome in Basenji dogs due to a mutation in the FAN1 gene have been moved to '<a href=\"https://omia.org/OMIA002683/9615/\">OMIA:002683-9615</a> : Fanconi syndrome, FAN1-related in Canis lupus familiaris' [2/5/2023]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Focal metatarsal fistula","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":389,"omia_phene_id":682,"omia_record_id":"OMIA:000389-9615","publication_ids":[36603,123718],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:682","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"}],"characterised":true,"characterised_year":1996,"clinical_features":"Affected dogs appear clinically normal until around 4-6 months of age, when behavioral signs are first noticeable.  Signs include progressive ataxia, proprioceptive dysfunction, change in temperament, dysphagia, dysphonia, loss of learned behavior, muscle wasting, and apparent blindness.  Affected dogs usually die or are euthanized by 3-4 years of age (Skelly et al., 1996, Fletcher et al., 2011). Bone marrow transplantation therapy slowed progression and decreased severity of clinical signs, but only if performed at an early age (Taylor et al., 1992).","defect":true,"group_name":"Fucosidosis, alpha","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":396,"omia_phene_id":693,"omia_record_id":"OMIA:000396-9615","publication_ids":[7808,9828,12994,14722,17464,21036,27400,28199,31998,34648,66201,66966,71530,76668,80650,85489,85490,85491,85492,85493,89524,110562,112756,112757,112758,112759,112760,112761,112762,112763,112764,112765,112766,112991,116933,120540,127691,127692,127693,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:693","source_release":"retrieved-2026-09-12","summary":"Alpha fucosidosis is a lysosomal disease characterized by severe, progressive neurological degeneration. Affected dogs usually die or are euthanized by 3-4 years of age. There is a test available. Therapeutic methods are under investigation. ","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Galactosialidosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":400,"omia_phene_id":695,"omia_record_id":"OMIA:000400-9615","publication_ids":[41258],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:695","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Gangliosidosis, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":401,"omia_phene_id":698,"omia_record_id":"OMIA:000401-9615","publication_ids":[7187,10208],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:698","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"},{"name":"Shiba Inu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201220"}],"characterised":true,"characterised_year":2000,"clinical_features":"Affected dogs generally have proportional dwarfism, which is easily observed in the Alaskan husky, and all develop progressive cerebellar dysfunction and limb weakness. Signs include weight loss, ataxia, wide-based gait, decreased proprioception, intention tremor of the head, ataxia, hypermetria, dysmetria, internal strabismus, and positional nystagmus. Signs begin around 6 to 8 weeks of age, and are clearly noticeable by 7 months of age. Abnormal endochondral ossification of vertebral epiphyses was visible in radiographs of 5.5 month old affected Alaskan huskies. Affected dogs occasionally have an increase in serum ALP. Coarse facial features are seen in affected English springer spaniels (Müller et al., 2001, Alroy et al., 1992). Bone marrow transplantation therapy was attempted but ineffective in affected Portugese water dogs (O’Brien et al., 1990).","defect":true,"group_name":"Gangliosidosis, GM1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":402,"omia_phene_id":702,"omia_record_id":"OMIA:000402-9615","publication_ids":[10573,28461,31321,33088,59086,82313,92548,92930,93722,102981,105767,107281,107557,107884,108983,108988,108989,110262,110263,110264,110265,110266,110267,110268,110269,110270,110271,110272,110273,110274,110275,112582,112991,113599,113601,114615,114989,115447,116393,123442,125285,126403,128324,132788],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:702","source_release":"retrieved-2026-09-12","summary":"GM1 gangliosidosis is a lysosomal storage disease caused by beta galactosidase deficiency and characterized by progressive neurological deterioration. It is caused by mutations in GLB1, although the mutations differ by breed. There is a genetic test available.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Gangliosidosis, GM2, generic","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":403,"omia_phene_id":705,"omia_record_id":"OMIA:000403-9615","publication_ids":[1984,3805,110267,110321,110323,110324,112532,112533,115447,116393,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:705","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Gastric dilatation volvulus syndrome","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":404,"omia_phene_id":707,"omia_record_id":"OMIA:000404-9615","publication_ids":[47939,48316,61630,63759,65030,67548,67867,67954,72039,72826,74277,76655,79314,79413,79604,80838,81105,82275,82384,85981,86653,89123,89880,94265,94323,95080,99402,106277,106493,107195,108941,114091,114092,114093,114094,114095,114096,114097,114098,114099,114100,114101,114102,114103,114104,114105,114106,114107,114108,114109,114110,114680,115042,116035,116324,117116,117121,117122,117123,117124,117125,117126,117127,117175,117248,117316,117704,118049,118128,122726,124102,132034],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:707","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Gaucher disease, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":405,"omia_phene_id":708,"omia_record_id":"OMIA:000405-9615","publication_ids":[2601,109729,109730,126375],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:708","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Gingival hypertrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":409,"omia_phene_id":713,"omia_record_id":"OMIA:000409-9615","publication_ids":[109923],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:713","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glaucoma, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":411,"omia_phene_id":715,"omia_record_id":"OMIA:000411-9615","publication_ids":[643,7008,8239,9798,15739,19411,52340,61202,62675,68082,100360,107627,108996,113859,113866,113867,113870,113871,113872,113873,113874,113875,113876,113878,113879,113880,113881,114328,114411,114737,114738,114739,114740,114741,115644,116307,116665,116789,117009,123695,123876,124203,124209,125219,126648,127059,128645,131143,132386],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:715","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists (2021): Glaucoma is \"characterized by an elevation of intraocular pressure (IOP) which causes optic nerve and retinal degeneration and results in blindness. Diagnosis and classification of glaucoma requires tonometry and gonioscopy, which are not part of a routine eye certification examination.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glomerulonephritis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":413,"omia_phene_id":717,"omia_record_id":"OMIA:000413-9615","publication_ids":[33731,60429,61474,67973,77392,93714,97794,98255,98573,122381,122382,133399],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:717","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glomerulonephropathy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":414,"omia_phene_id":718,"omia_record_id":"OMIA:000414-9615","publication_ids":[47719,70683,90026,107462,108972,122343,130377,133399],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:718","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glossopharyngeal defect","inheritance":{"code":"RL","name":"Autosomal recessive lethal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":415,"omia_phene_id":719,"omia_record_id":"OMIA:000415-9615","publication_ids":[111313],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:719","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201454"},{"name":"Maltese Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200859"}],"characterised":true,"characterised_year":1997,"clinical_features":"Affected animals are hypoglycemic if fasted, and develop lactic acidosis, hypertriglyceridemia, and hyperuricemia (Specht et al., 2011). Signs include severe hepatomegaly, poor body condition, lethargy, failure to thrive, coma, and death.","defect":true,"group_name":"Glycogen storage disease Ia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009287","iri":"http://purl.obolibrary.org/obo/MONDO_0009287","label":"glycogen storage disease due to glucose-6-phosphatase deficiency type IA"}],"name":"","omia_group_id":418,"omia_phene_id":723,"omia_record_id":"OMIA:000418-9615","publication_ids":[62111,76704,95127,101592,110309,110310,110311,110312,114045,114046,114047,114048,118052,118748,120387,121122,122576,123599,124570,124974],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:723","source_release":"retrieved-2026-09-12","summary":"Glycogen storage disease I is a severe disorder of glycogen metabolism characterized by glycogen accumulation, particularly in the liver. Signs include severe hepatomegaly, failure to thrive, coma, and death. There is a genetic test available.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Finnish Lapphund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200523"},{"name":"Lapponian Herder (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200814"},{"name":"Swedish Lapphund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201315"}],"characterised":true,"characterised_year":2013,"clinical_features":"Affected dogs exhibit regurgitation and recurrent vomiting of mucus. Constant panting, dyspnoea, dysphonia, and dysphagia are evident at 13 months (Seppälä et al., 2013). Loss of condition, progressive muscular weakness, and exercise intolerance may become apparent (Almodóvar-Payá et al., 2020). Glycogen storage disease II (GSD II) in dogs may lead to decreases in ALP, and increases in ALAT, BUN, and glucose levels (Walvoort et al., 1984). Biochemical studies demonstrated a severe deficiency of acid α-glucosidase activity in heart, skeletal muscle, and liver fibroblasts. Glycogen content was substantially elevated in the heart and skeletal muscle (Walvoort et al., 1982). Haematology shows increases in monocyte count and increases in mean platelet volume at 18 months (Seppälä et al., 2013). Radiographs of affected dogs show dilatation of the oesophagus and cardiac enlargement; ultrasound indicates liver changes (Seppälä et al., 2013). GSD II is often associated with clinical heart disease and myocardial hypertrophy (Walvoort et al., 1984). [IT thanks DVM student Jed Stevens, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Glycogen storage disease II","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":419,"omia_phene_id":726,"omia_record_id":"OMIA:000419-9615","publication_ids":[7503,41629,110314,110315,110316,110317,110318,110319,114044,121122,123367,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:726","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"Deutscher Wachtelhund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200440"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"}],"characterised":true,"characterised_year":1996,"clinical_features":"Presenting signs include muscle cramps, exercise intolerance, and a mild increase in creatine kinase.  Affected dogs can also present in hemolytic crisis with hemoglobinuria and bilirubinuria after excessive excitement, exercise, or hyperthermia.  During a crisis, the dog can develop severe anemia, icterus, fever, lethargy, and anorexia.  This anemia is regenerative, usually resolving within several days.  Affected animals have a normal life span, usually maintaining a normal PCV but persistent bilirubinuria and reticulocytosis. Variable muscle wasting, hepatosplenomegaly, and increased total body iron stores have also been reported (Gerber et al., 2009).","defect":true,"group_name":"Glycogen storage disease VII","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009295","iri":"http://purl.obolibrary.org/obo/MONDO_0009295","label":"glycogen storage disease VII"}],"name":"","omia_group_id":421,"omia_phene_id":729,"omia_record_id":"OMIA:000421-9615","publication_ids":[14452,20442,20770,28305,29420,32645,50183,53806,69171,88437,96977,107367,107368,107369,109415,110285,111518,112386,112645,117630,121122,127595],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:729","source_release":"retrieved-2026-09-12","summary":"Phosphofructokinase (PFK) deficiency is an inherited enzyme deficiency causing hemolytic crises and exertional myopathy.  Genetic tests are available to detect causative mutations, which have beend identical in the English springer spaniel, American cocker spaniel, Whippet and Wachtelhund. \r\n\r\nEdited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT and updated by IT [April 2022]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Granule cell type cerebellar hypoplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":427,"omia_phene_id":733,"omia_record_id":"OMIA:000427-9615","publication_ids":[38780],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:733","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemolytic anaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":430,"omia_phene_id":737,"omia_record_id":"OMIA:000430-9615","publication_ids":[8269,8313,9101,9124,32926,114305,116247],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:737","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemolytic anaemia, autoimmune","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Immune mediated haemolytic anaemia","omia_group_id":432,"omia_phene_id":740,"omia_record_id":"OMIA:000432-9615","publication_ids":[9821,13802,16563,29426,36240,61224,71011,72360,73682,74879,79505,79730,80187,87358,87402,87559,92037,107018,107365,111624,111625,111626,111627,111628,116325,117363,124478,124479,125163,126022,127906,130183,130724,132355],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:740","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basenji (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200120"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemolytic anaemia, nonspherocytic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":433,"omia_phene_id":741,"omia_record_id":"OMIA:000433-9615","publication_ids":[1942,19659],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:741","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemolytic anaemia, primary autoimmune","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":434,"omia_phene_id":742,"omia_record_id":"OMIA:000434-9615","publication_ids":[8958,44802,100838,109212],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:742","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemolytic uremic syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":435,"omia_phene_id":743,"omia_record_id":"OMIA:000435-9615","publication_ids":[42517],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:743","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Heart defect, congenital","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":446,"omia_phene_id":758,"omia_record_id":"OMIA:000446-9615","publication_ids":[13680,15160,17633,21028,56664,58490,73537,126756,127964,128382,132426],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:758","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hepatic encephalopathy, portosystemic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":816,"omia_phene_id":766,"omia_record_id":"OMIA:000816-9615","publication_ids":[51078,52683,122178,122179],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:766","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hepatic fibrosis, idiopathic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":454,"omia_phene_id":767,"omia_record_id":"OMIA:000454-9615","publication_ids":[41810],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:767","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hernia, diaphragmatic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":459,"omia_phene_id":779,"omia_record_id":"OMIA:000459-9615","publication_ids":[8889,9395,77803,79906,81847,84453,102787],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:779","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hernia, hiatal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":461,"omia_phene_id":786,"omia_record_id":"OMIA:000461-9615","publication_ids":[9980,14537,77803,83205,83212,99802,102761,102864],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:786","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hernia, inguinal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":462,"omia_phene_id":789,"omia_record_id":"OMIA:000462-9615","publication_ids":[12864,13528,35179,69277,83266],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:789","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hernia, oesophageal hiatal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":463,"omia_phene_id":794,"omia_record_id":"OMIA:000463-9615","publication_ids":[42335],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:794","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hernia, umbilical","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":465,"omia_phene_id":798,"omia_record_id":"OMIA:000465-9615","publication_ids":[9375,13528,35179,127232],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:798","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hip dysplasia","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"This disorder is a classic example of a multifactorial trait; it is definitely familial, but is equally definitely NOT due to a single gene. Heritability of liability has been estimated on many occasions. The most comprehensive review of CHD heritability published to date is by Janutta and Distl (2006) who present 105 estimates ranging from 0.00 to 0.93, based on 125,166 dogs, with an average of around 0.35. The most comprehensive large-scale analysis of CHD data is the one by Oberbauer et al. (2017) who estimated the heritability of CHD (scored according to the OFA criteria [see below] on 1,056,852 dogs representing 60 breeds) as ranging from 0.46 to 0.75, with an average of 0.57.","mondo_terms":[],"name":"Canine hip dysplasia","omia_group_id":473,"omia_phene_id":815,"omia_record_id":"OMIA:000473-9615","publication_ids":[2207,7010,7108,7217,7293,7432,7520,7671,7718,7820,7905,8116,8149,8259,8456,8717,8898,9000,9048,9174,9239,9264,9668,9720,9760,9778,9810,9865,11307,12613,13384,13480,14178,15240,15814,16324,17910,17969,18282,18415,19986,20433,21180,21372,22253,23165,23317,24124,24404,25435,26026,26461,26497,26834,27111,27539,27568,27872,29436,30984,32271,32534,33422,33971,34245,34559,36199,36902,37760,37802,38708,38787,39106,39138,39921,40925,40929,41155,42891,43764,43884,43910,44114,45631,45637,45949,47220,47625,47946,48043,48401,49160,49819,50247,50385,50869,51205,52745,54197,54222,55503,57341,57350,59725,60353,61403,61404,62773,64569,64640,64661,65211,65221,65276,65506,66520,66914,67550,68502,68950,69219,69256,69444,69509,69524,69617,69624,70336,70392,70824,71256,71338,71349,71558,71594,71713,71901,71959,72632,72641,72689,73279,73368,73374,73392,74201,74364,74390,74483,74506,74510,74519,74529,74530,74539,74548,74562,74581,74930,76260,76302,76411,76883,76918,77004,77352,77702,77793,78263,78498,78580,78587,78866,79109,80574,81170,81318,81621,81841,81982,82258,82273,82391,82455,83060,84070,84116,84351,84765,84804,85202,85244,85260,86152,86341,86793,87294,87631,88233,88602,89673,89681,90321,91330,91450,91457,91480,91596,91785,92094,92229,92272,92408,92483,92660,92870,92980,93331,93641,93987,94118,94561,94788,94789,94817,95408,95721,96266,96450,97747,98086,98575,98600,98694,98785,98927,99070,99253,99269,99560,99690,99749,99990,100006,101565,102023,102130,102297,102385,102450,104606,105404,105454,105521,106946,106980,107095,107134,107188,107274,107315,107370,107377,107378,107551,107555,107561,107569,107570,107681,107682,108059,108062,108063,108064,108065,108066,108067,108068,108069,108070,108071,108086,108087,108088,108089,108090,108093,108094,108095,108096,108098,108099,108100,108102,108103,108104,108105,108106,108107,108108,108109,108110,108111,108112,108113,108114,108115,108116,108117,108118,108119,108120,108121,108122,108123,108124,108125,108126,108127,108128,108129,108130,108131,108132,108133,108134,108135,108136,108137,108138,108139,108140,108141,108142,108143,108144,108145,108146,108147,108148,108150,108151,108152,108153,108154,108155,108156,108157,108158,108159,108160,108161,108162,108163,108164,108165,108166,108167,108168,108169,108170,108171,108172,108173,108174,108175,108176,108177,108178,108179,108180,108181,108182,108183,108184,108185,108186,108187,108188,108189,108190,108191,108192,108193,108194,108195,108196,108197,108198,108199,108200,108201,108202,108204,108205,108206,108207,108208,108297,108299,108307,108308,108309,108337,108482,108483,108484,108487,108488,108489,108490,108491,108492,108493,108494,108495,108496,108498,108499,108500,108501,108502,108503,108504,108505,108508,108509,108510,108511,108579,108597,108599,108600,108601,108602,108603,108604,108605,108606,108608,108609,108610,108611,108612,108613,108614,108615,108617,108618,108619,108620,108621,108622,108623,108624,108625,108626,108627,108628,108629,108630,108631,108632,108634,108635,108636,108637,108638,108639,108640,108641,108930,108936,108937,108938,108939,108940,108941,108943,108944,108945,109008,109009,109010,109113,109114,109115,109116,109117,109118,109119,109120,109121,109175,109239,109509,109510,109514,109843,109924,109925,109926,109927,109928,109929,109930,110037,110088,110089,110109,110110,110212,110246,110248,110260,110289,110352,110410,110553,110577,110954,111844,111845,112091,112194,112511,112512,112513,112514,112515,112516,112517,112518,112578,112594,112907,113155,113337,113338,113588,113589,113923,113924,113925,113926,114091,114154,114173,114203,114264,114265,114317,114395,114397,114398,114456,114457,114623,114782,114989,115026,115071,115119,115120,115235,115343,115382,115460,115537,115556,115634,115645,115646,115653,115684,115743,115788,115794,115795,115826,115830,115839,115941,115942,115971,116113,116299,116369,116370,116371,116372,116373,116374,116613,117205,117391,117513,117545,117552,117554,117555,117576,117577,117627,117661,117747,117773,117835,117836,117841,117872,117989,117995,118049,118069,118070,118083,118088,118096,118111,118118,118632,119239,120390,120401,120444,120666,120692,120800,120824,120887,121168,122033,122083,122205,122281,122289,122305,122606,122916,123520,123938,124032,124183,124251,124252,124277,124360,124566,124876,124893,124922,124996,125025,125406,125699,125707,125825,125993,126149,126636,126795,127077,128107,128190,128407,128834,128925,129238,129369,129990,130562,130726,131168,132113,132896,133475],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:815","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hodgkin disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":476,"omia_phene_id":821,"omia_record_id":"OMIA:000476-9615","publication_ids":[37366,123719],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:821","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hydrocephalus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":487,"omia_phene_id":837,"omia_record_id":"OMIA:000487-9615","publication_ids":[41282,66338,69375,79485,108519,109444,127232,130232,133282],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:837","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cushing syndrome, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":494,"omia_phene_id":851,"omia_record_id":"OMIA:000494-9615","publication_ids":[14698,22061,39685,40607,42868,43489,45258,47606,50906,50953,51175,51353,56037,57352,58319,59702,60032,60794,62958,65826,66475,67447,67462,71080,73197,73235,73437,73443,73559,73560,73562,73911,76391,76421,76424,76790,76993,77260,77322,77854,77971,78344,78984,80190,80984,80985,81135,81156,81366,81616,81843,81873,82981,84274,85163,85474,87195,87202,87554,88400,88435,88512,88560,88587,88975,89138,89310,89525,90377,91071,91617,94301,94373,95759,98141,99101,100357,100375,101134,101552,101575,101610,102918,102993,102994,103015,104098,105188,106137,106941,106990,107318,107548,107614,107621,107632,107734,108074,109468,109469,112029,112031,114091,114544,115884,116851,117024,117071,117086,117353,117416,117517,120019,120996,122466,123827,124091,124905,124977,125315,125794,126072,128689,129226,130555,130648,130756,130875,131007,132087,133494],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:851","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hyperbilirubinaemia, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":495,"omia_phene_id":853,"omia_record_id":"OMIA:000495-9615","publication_ids":[17901,83068],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:853","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypereosinophilic syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":502,"omia_phene_id":863,"omia_record_id":"OMIA:000502-9615","publication_ids":[38924,98563,98583,117129],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:863","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hyperkinesis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Scottie cramp; Scotty cramp","omia_group_id":503,"omia_phene_id":864,"omia_record_id":"OMIA:000503-9615","publication_ids":[6489,7303,8564,9145,39648,108783,108785],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:864","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hyperlipoproteinaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1210,"omia_phene_id":866,"omia_record_id":"OMIA:001210-9615","publication_ids":[42332,43212,43456,129758],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:866","source_release":"retrieved-2026-09-12","summary":"See also: <a href=\"https://www.omia.org/OMIA000514/9615/\">OMIA:000514-9615</a> : Hypertriglyceridaemia in&nbsp;<em>Canis lupus familiaris</em>&nbsp;(dog)","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Keeshond (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200759"}],"characterised":true,"characterised_year":null,"clinical_features":"Across genetic and non-genetic forms of the disease, the most common clinical signs associated with canine hyperparathyroidism include polyuria (Thompson et al., 1984; Gear et al.. 2005; Sakals et al., 2010; Jores and Kessler, 2011), polydipsia (Thompson et al., 1984; Gear et al., 2005; Sakals et al., 2010; Jores and Kessler, 2011) stiff gait (Jores and Kessler, 2011) and weakness (Thompson et al., 1984; Sakals et al., 2010). Less common clinical signs include anorexia (Sakals et al., 2010), stunted growth (Thompson et al., 1984) and reduced activity (Jores and Kessler, 2011). Changes in haematology and biochemistry have been noted, with many published case reports indicating mild to extensive hypercalcaemia (Thompson et al., 1984; Sakals et al., 2010;  Jores and Kessler, 2011), hypophosphatemia (Thompson et al., 1984; Jores and Kessler, 2011) and elevated serum parathyroid hormone (Sakals et al., 2010; Jores and Kessler, 2011) to be the key changes associated with canine hyperparathyroidism.\r\nIT thanks DVM student Stephanie Shields, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Hyperparathyroidism","inheritance":null,"inheritance_text":"Genetic forms of primary hyperparathyroidism include a suspected recessive form with early onset in German Shepherd puppies (Thompson et al., 1984) and an autosomal dominant form with adult onset in Keeshond (Goldstein et al., 2007).","mondo_terms":[{"id":"MONDO:0001741","iri":"http://purl.obolibrary.org/obo/MONDO_0001741","label":"hyperparathyroidism"}],"name":"This entry includes information about primary hyperparathyroidism (PHPT)","omia_group_id":508,"omia_phene_id":873,"omia_record_id":"OMIA:000508-9615","publication_ids":[67811,71119,86130,86432,95831,106955,106967,108516,109466,110292,110293,110294,110295,110296,110297,110298,110299,110300,114244,117394,120862,125179,125180,125181,126407],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:873","source_release":"retrieved-2026-09-12","summary":"This disorder occurs in many different forms, many of which are not inherited. Goldstein et al. (2008) report that the majority of cases of primary hyperparathyroidism in dogs are due to adenoma, and that malignant  parathyroid  carcinoma are considered rare. Breed predispositions have been reported and a neonatal form of hyperparathyroidism with a suspected autosomal recessive mode of inheritance has been reported in German Shepherd puppies (Thompson et al., 1984) and inherited hyperparathyroidism with adult onset and a suspected autosomal dominant mode of inheritance has been reported in Keeshond (Goldstein et al., 2007). A non-published DNA test is offered for Keeshond.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypertension","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":509,"omia_phene_id":874,"omia_record_id":"OMIA:000509-9615","publication_ids":[36853,42799,62376,70716,75180,76641,87663,117180,122445],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:874","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypertension, essential","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":510,"omia_phene_id":876,"omia_record_id":"OMIA:000510-9615","publication_ids":[40781],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:876","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cardiomyopathy, hypertrophic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":515,"omia_phene_id":882,"omia_record_id":"OMIA:000515-9615","publication_ids":[42841,68134,106226,109997,110000,114091,125564,126327,127469,128951,129819],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:882","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Tibetan Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201351"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neuropathy, hypertrophic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":518,"omia_phene_id":885,"omia_record_id":"OMIA:000518-9615","publication_ids":[41595],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:885","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypoadrenocorticism","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":519,"omia_phene_id":886,"omia_record_id":"OMIA:000519-9615","publication_ids":[23970,37670,50910,52462,53669,54524,57489,60176,64168,65466,68085,71501,73448,73540,74326,78690,82351,82459,82920,88416,89135,91386,100754,104871,107027,107325,108541,108542,108543,108544,108706,108947,109213,109214,109215,109216,109217,113527,114091,114897,115663,117099,117118,117119,117311,117381,117524,118050,118062,118651,119014,121029,121131,122673,122734,123104,123573,123827,124690,124693,124694,124834,124905,125346,125635,126414,128435,128873,129610,130581,130894,132342,132650,132651,132756,133317],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:886","source_release":"retrieved-2026-09-12","summary":"See also <a href=\"../../../../../../OMIA003051/9615/\">OMIA:003051-9615</a> : Addison’s disease and multiple autoimmune syndrome, RESF1-related in Canis lupus familiaris (dog)","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypoadrenocorticism, primary","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":520,"omia_phene_id":887,"omia_record_id":"OMIA:000520-9615","publication_ids":[123573,126065],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:887","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypogonadism","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":522,"omia_phene_id":889,"omia_record_id":"OMIA:000522-9615","publication_ids":[42889],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:889","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Hypolipoproteinaemia (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":524,"omia_phene_id":890,"omia_record_id":"OMIA:000524-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:890","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"},{"name":"Rat Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201125"},{"name":"Scottish Deerhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201195"},{"name":"Spanish Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201280"},{"name":"Tenterfield Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201342"},{"name":"Toy Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201361"}],"characterised":true,"characterised_year":2003,"clinical_features":"Signs include growth retardation (dwarfism), epiphyseal dysplasia in the vertebrae and limbs, delayed dental eruption, delayed opening of eyes and ear canals, delayed haircoat maturation, thickened subcutis, lethargy, unresponsiveness, failure to suckle.  Goiter, extremely low T4, and increased TSH are signs in Toy Fox Terriers, Rat Terriers, Tenterfield Terriers, and Spanish Water Dogs.  \r\nOnset of signs is early (less than one week of age) in primary congenital hypothyroidism \r\nClinical signs of iodine toxicosis in fetal and early postnatal life are similar to those of congenital hypothyroidism but the two disorders are distinguished by different thyroid histology.","defect":true,"group_name":"Hypothyroidism, congenital","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"The mode of inheritance is autosomal recessive.","mondo_terms":[{"id":"MONDO:0010133","iri":"http://purl.obolibrary.org/obo/MONDO_0010133","label":"thyroid dyshormonogenesis 2A"}],"name":"Congenital hypothyroidism with goiter","omia_group_id":536,"omia_phene_id":904,"omia_record_id":"OMIA:000536-9615","publication_ids":[11118,13269,23058,36597,37086,43489,44236,46808,51875,54135,55212,57340,57342,61462,63378,63394,66812,67046,68213,70017,70770,71043,71459,71682,71906,72087,72986,72987,72995,72996,73000,73011,73020,73027,73042,73050,73059,73063,73076,73095,73096,73101,73105,73106,73111,73114,73119,73139,73141,73142,73152,73153,73154,76544,77315,78674,78783,79061,79132,79988,80929,81135,81381,81693,81880,85059,85379,87817,87819,96033,98150,98186,99766,99767,102084,102301,102940,104614,105336,106137,106512,107736,107737,109464,109465,109911,110115,110449,112983,113306,114091,115886,116016,116181,116308,116324,116705,117278,117310,117852,123280,123281,123282,123283,123284,123839,124905,126328,127217],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:904","source_release":"retrieved-2026-09-12","summary":"Congenital hypothyroidism (CH) is an endocrine disorder characterized by inadequate T4 levels early in life concurrent with signs of hypothyroidism.  Disease can be primary (failure to make T4), which is due to abnormal thyroid development or function.  Primary hypothyroidism often presents with goiter but can be due to thyroid dysgenesis.  CH can be secondary (failure to make bioactive TSH), which is caused by abnormal pituitary development or function.  CH can also be tertiary (failure to make TRH) due to abnormal hypothalamic function.  \r\nSigns of CH with goiter include growth retardation (dwarfism), epiphyseal dysplasia in the vertebrae and limbs, and delay in maturation changes such as dental eruption, opening of eyes and ear canals, and growth of guard hairs.  Other signs include thickened subcutis, lethargy, unresponsiveness, and failure to suckle.  The disorder is lethal unless diagnosed and treated early. Goiter, extremely low T4, and increased TSH are signs in Toy Fox Terriers, Rat Terriers, Tenterfield Terriers, and Spanish Water Dogs.  \r\nIn dogs likely causal variants have been described in at least two genes (TPO - described in this entry, and SLC5A5 - see 'OMIA002174-9615 Hypothyroidism, congenital dyshormonogenic, with goiter). Non-genetic forms of the condition are possible and may represent some of the case studies for which references are listed in this entry.\r\nThe mode of inheritance is autosomal recessive for TPO-related congenital hypothyroidism in dogs.  Causative mutations in 3 terrier breeds and the Spanish water dog are all in the gene that codes for thyroid peroxidase (TPO), the enzyme responsible for irreversible binding of iodide to thyroglobulin.  This process is known as organification of iodide, and it is a necessary step of thyroid hormone synthesis.  If thyroid peroxidase activity is not present, the animal is unable to make T4 and presents with primary hypothyroidism. Goiter develops as thyroid cells undergo hypertrophy and hyperplasia due to unrelenting TSH stimulation.\r\nDNA-based tests are available to detect the TPO mutation in all 4 breeds.\r\nBreeding of carrier animals to each other is not recommended.  If a carrier animal is bred to a homozygous normal animal, testing the offspring is advised.  \r\n\r\nEdited by John C. Fyfe, D.V.M., Ph.D. (edited by IT 22/5/2022)","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypotrichosis, generic","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"There have been many isolated reports of this disorder, and it is impossible to tell whether they are alleleic or not. In the case of Chinese crested dogs, Robinson (1985) provided convincing evidence that hairlessness in this breed is a single-locus trait, and that hairless Chinese crested animals are heterozygous for an allele that is lethal when homozygous: matings among Chinese crested animals produced a ratio of normal to hairless much closer to 2:1 than 3:1.","mondo_terms":[],"name":"","omia_group_id":540,"omia_phene_id":913,"omia_record_id":"OMIA:000540-9615","publication_ids":[254,9183,12544,20884,31584,31817,34361,36088,38784,45380,46574,46653,62613,62633,64596,64609,70221,73180,73813,75449,77606,80022,83533,84278,87459,87724,89292,90673,94681,107261],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:913","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Immunodeficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":550,"omia_phene_id":929,"omia_record_id":"OMIA:000550-9615","publication_ids":[51033,57262,74769,80400,89002,103144,133374],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:929","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Immunoglobulin A deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":552,"omia_phene_id":931,"omia_record_id":"OMIA:000552-9615","publication_ids":[24321,37344,65671,105193,113536,116015,116683,120411],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:931","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Immunoglobulin A glomerulonephropathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":553,"omia_phene_id":932,"omia_record_id":"OMIA:000553-9615","publication_ids":[36188,117318],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:932","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Inborn error of hepatic metabolism","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":561,"omia_phene_id":943,"omia_record_id":"OMIA:000561-9615","publication_ids":[25566],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:943","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Difference of sexual development, generic","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0002145","iri":"http://purl.obolibrary.org/obo/MONDO_0002145","label":"disorder of sexual differentiation"}],"name":"","omia_group_id":564,"omia_phene_id":951,"omia_record_id":"OMIA:000564-9615","publication_ids":[7770,9825,17592,18215,18974,25374,26162,31801,42812,66713,88293,92416,122026,125932,129118],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:951","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"},{"name":"Komondor (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200779"}],"characterised":true,"characterised_year":2005,"clinical_features":"Signs begin around 6 to 12 weeks of age, and include failure to thrive and chronic inappetance. Affected animals also demonstrate neutropenia with hypersegmentation, nonregenerative anemia with anisocytosis and poikilocytosis, megaloblastic changes of the bone marrow, decreased serum Cbl concentrations, methylmalonic aciduria, and homocysteinemia. These animals have normal renal function, but low-molecular weight urinary protein excretion (Fyfe et al., 1991).","defect":true,"group_name":"Intestinal cobalamin malabsorption, AMN-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Autosomal recessive","mondo_terms":[],"name":"","omia_group_id":565,"omia_phene_id":957,"omia_record_id":"OMIA:000565-9615","publication_ids":[23124,26273,93465,107815,110306,110447,110448,116890,120419],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:957","source_release":"retrieved-2026-09-12","summary":"Intestinal cobalamin malabsorption is a metabolic disorder characterized by failure to thrive, neutropenia, decreased serum cobalamin (Cbl), and nonregenerative anemia. Other signs include chronic inappetance, megaloblastic changes of the bone marrow, methylmalonic aciduria, and homocysteinemia. It occurs in the giant schnauzer, Australian shepherd, border collie, Hungarian komondor, and beagle. In giant schnauzers and Australian shepherds intestinal cobalamin malabsorption is due to absence of receptors for the intrinsic factor-Cbl complex at the brush border of enterocytes in the ileum. A specific defect has not yet been demonstrated in other breeds. The mode of inheritance is autosomal recessive. The two known causative mutations are a deletion in AMN in the giant schnauzer, and a nucleotide substitution in AMN in the Australian shepherd. Tests are available to detect the known causative mutations. Parents and siblings of affected dogs should be tested. Breeding of affected dogs is not recommended. Carriers should be bred only to clinically normal dogs demonstrated to be non carriers. Entry edited by John C. Fyfe, D.V.M., Ph. D. Intestinal cobalamin malabsorption can be caused by mutations in the AMN gene (this entry) or by mutations in the CUBN gene [<a href=\"../../../../../../OMIA001786/9615/\">OMIA:001786-9615</a>].","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Iris atrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":566,"omia_phene_id":958,"omia_record_id":"OMIA:000566-9615","publication_ids":[15421],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:958","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Iris defects","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":567,"omia_phene_id":960,"omia_record_id":"OMIA:000567-9615","publication_ids":[11992],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:960","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chromosomal structural anomaly, fragile site, autosomal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":392,"omia_phene_id":1061,"omia_record_id":"OMIA:000392-9615","publication_ids":[21480,25651,39398],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1061","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dysautonomia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":312,"omia_phene_id":1106,"omia_record_id":"OMIA:000312-9615","publication_ids":[40752,67477,78172,78599,96038,99177,99838,99901,101922,120603,125358,130473],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1106","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hepatic encephalopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":453,"omia_phene_id":1118,"omia_record_id":"OMIA:000453-9615","publication_ids":[27535,36885,58028,59859,60076,116348],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1118","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypothalamic dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":535,"omia_phene_id":1127,"omia_record_id":"OMIA:000535-9615","publication_ids":[40116],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1127","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"},{"name":"Chow Chow (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200361"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"English Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200495"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201185"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ciliary dyskinesia, primary, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Several types of primary ciliary dyskinesia (also called Kartagener syndrome, immotile-cilia syndrome) exist. This entry focuses on primary ciliary dyskinesia for which likely causal variants have not been identified. Types of this disease for which a causal gene has been identified are listed in separate entries, e.g. 'OMIA002206-9615 : Ciliary dyskinesia, primary, NME5-related in Canis lupus familiaris' (Alaskan Malamute) or 'OMIA001540-9615 : Ciliary dyskinesia, primary, CCDC39-related in Canis lupus familiaris' (Old English Sheepdog).","omia_group_id":573,"omia_phene_id":1131,"omia_record_id":"OMIA:000573-9615","publication_ids":[14989,17449,22363,56084,84144,86387,94434,99893,107301,109648,109651,109652,109653,109654,109655,109656,109657,109658,121251,123370,123371,123372,123373,123374,125552],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1131","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200090"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Bluetick Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200183"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":true,"characterised_year":1996,"clinical_features":"Clinical signs are usually apparent in affected dogs by 4-6 weeks of age (Corado et al., 2020). Affected dogs initially present with tremors and pelvic limb weakness which then progresses to pelvic limb ataxia as well as thoracic limb dysmetria, followed by tetraparesis and then eventually hind limb paralysis (Corado et al., 2020). Other clinical signs may include a wide-based stance, hypermetria, generalised  incoordination and muscle atrophy (Bradbury et al., 2018). [IT thanks DVM student Sharna Allison, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Krabbe disease","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009499","iri":"http://purl.obolibrary.org/obo/MONDO_0009499","label":"Krabbe disease"}],"name":"globoid cell leukodystrophy","omia_group_id":578,"omia_phene_id":1140,"omia_record_id":"OMIA:000578-9615","publication_ids":[200,6696,7280,7854,7958,8115,8578,8658,9510,56957,67199,82983,85184,91304,94154,107795,109416,109419,110227,111490,116394,117003,117013,120050,120540,121022,122080,123152,123190,123191,123192,123193,123194,123195,123196,125673,126293,128324,132066],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1140","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Legg-Calvé-Perthes disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":586,"omia_phene_id":1149,"omia_record_id":"OMIA:000586-9615","publication_ids":[8540,9135,9707,11353,18510,30553,57410,83523,89288,102023,110080,110081,110082,110083,110084,110085,110086,110087,112089,112090,112091,125025],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1149","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Toy Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200057"},{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"},{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"},{"name":"German Hunting Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200568"},{"name":"German Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201454"},{"name":"German Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200585"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"},{"name":"Lancashire Heeler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200808"},{"name":"Miniature Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200882"},{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"},{"name":"Patterdale Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200990"},{"name":"Portuguese Podengo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201067"},{"name":"Rat Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201125"},{"name":"Sealyham Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201200"},{"name":"Tenterfield Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201342"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"},{"name":"Toy Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201361"},{"name":"Volpino Italiano (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201390"},{"name":"Welsh Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201412"},{"name":"Wire Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201424"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2010,"clinical_features":"The clinical features associated with primary lens luxation (PLL) are changes to eye lens stability in both eyes, with varying severity of clinical signs associated with each eye. PLL typically goes undetected until the lens displaces in one eye. Dogs typically present with concurrent partial lens displacement of the other eye, which progresses into full displacement weeks to months later (Farias et al., 2010; Colitz &amp; O’Connell, 2015). The lens usually moves anteriorly causing disruption to the pupil and draining mechanism in the eye, leading to acute glaucoma (Gould et al., 2011; Gharahkhani et al., 2015). IT thanks DVM student Zoe Levesque, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Lens luxation","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Primary lens luxation; isolated canine ectopia lentis; luxatio lentis","omia_group_id":588,"omia_phene_id":1152,"omia_record_id":"OMIA:000588-9615","publication_ids":[3472,7113,7814,9019,16572,108334,108335,108705,109176,109177,109178,109179,109868,109869,109870,109871,109873,112147,113243,114091,115392,115542,116317,116620,117845,120017,122863,123851,124863,124864,125142,125143,125219,125653,127725,127726,129746],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1152","source_release":"retrieved-2026-09-12","summary":"see also OMIA 001976-9615 : Glaucoma, primary open angle, ADAMTS17-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Irish Red and White Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200700"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":1999,"clinical_features":"Onset of signs is often less than 12 weeks of age, with average age of presentation to the veterinarian at 13.5 weeks. Signs include recurrent infections, neonatal omphalophlebitis, fever, anorexia, lameness, impaired wound healing, severe skin infections, gingivitis, salivation, thickened mandible, enlarged metaphyses of the distal radius, ulna, tibia, and fibula, lameness, enlarged lymph nodes, and low body weight (Creevy et al., 2003a).. Characteristically, wounds fail to exhibit purulent exudate (Kijas et al., 1999) in the face of severe peripheral leukocytosis with a left shift and active granulocytosis in the bone marrow. Untreated dogs often die by 6 months of age. Gene therapy has been successful in reversing clinical signs (Creevy et al., 2003b).","defect":true,"group_name":"Leukocyte adhesion deficiency, type I","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0007293","iri":"http://purl.obolibrary.org/obo/MONDO_0007293","label":"leukocyte adhesion deficiency 1"}],"name":"Canine leukocyte adhesion deficiency","omia_group_id":595,"omia_phene_id":1163,"omia_record_id":"OMIA:000595-9615","publication_ids":[31517,40349,43356,88274,91912,92696,94590,100001,102179,106584,107422,108314,109254,109517,110457,110458,110459,112823,112824,112825,112826,112827,112828,113694,117130,120515,125653,127700],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1163","source_release":"retrieved-2026-09-12","summary":"In canine leukocyte adhesion deficiency (CLAD) of the Irish Setter and the Irish Red and White Setter, leucocytes fail to express CD11/CD18 cell surface integrins due to CD18 deficiency. As these cell surface receptors are necessary for interaction with other cells and the extracellular matrix, affected leucocytes are unable to migrate to sites of infection, participate in phagocytosis, or mount a respiratory burst, which results in recurrent, life-threating infections. Clinical signs include severe, recurrent bacterial skin infections, neonatal omphalophlebitis impaired wound healing, wounds that fail to exhibit purulent exudate, fever, gingivitis, lameness, and enlarged lymph nodes. The mode of inheritance is autosomal recessive. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lymphoedema","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":613,"omia_phene_id":1181,"omia_record_id":"OMIA:000613-9615","publication_ids":[7437,8661],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1181","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Flat-Coated Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200528"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":false,"characterised_year":2017,"clinical_features":"","defect":true,"group_name":"Histiocytosis, malignant","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"After examining the family data pertaining to 127 cases in Bermese mountain dogs, Padgett et al. (1995) concluded that the data were not consistent with any of the simple, single-locus models of inheritance. Considering it as a multifactorial disorder, they estimated the heritability of liability to be 0.30.","mondo_terms":[],"name":"","omia_group_id":620,"omia_phene_id":1188,"omia_record_id":"OMIA:000620-9615","publication_ids":[37159,58348,59269,67159,108688,108946,110281,110282,112347,114223,115519,116049,116050,116051,116052,116053,116054,116055,116056,116057,116058,116059,116060,116061,116062,116063,116064,116065,116066,116067,116068,116069,116070,116071,116072,116073,116074,116075,116076,116077,116078,116079,116080,116081,116082,116084,116085,116086,116087,116088,116089,116090,116091,116092,116093,117743,118744,119092,119503,119558,119672,121579,122261,122262,122438,124216,124317,124515,124849,125013,125556,125828,128000,128144,128773,129000,129436,130118,130380,133125,133222],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1188","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Anatolian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200062"},{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201029"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"}],"characterised":true,"characterised_year":2001,"clinical_features":"MH is a pharmacogenetic clinical syndrome that affects multiple species. Dogs with malignant hyperthermia present as an outwardly healthy dog, but develop hypercapnea, tachycardia, and hyperthermia during general anesthesia. Signs can progress to cardiac dysrhythmia, rhabdomyolysis, renal failure, and death if the anesthetic is not discontinued. Common triggers of clinical signs include volatile inhalants (halothane, isoflurane, desflurane and sevoflurane) and depolarizing muscle relaxants such as succinylcholine (Roberts et al., 2001, Brunson and Hogan, 2004). Treatment involves cessation of the causative anesthetic, supportive care, cooling, and dantrolene administration. Dantrolene is a muscle relaxant that blocks calcium release inside myocytes (Brunson and Hogan, 2004). Unlike affected humans or pigs (Nelson et al., 2002), affected dogs develop signs primarily in response to chemical triggers and exhibit less severe metabolic acidosis and muscle rigidity during a clinical episode (Roberts et al., 2001). Alternative anesthetic protocols for affected dogs can include nitrous oxide, benzodiazepines, phenothiazines, barbiturates, etomidate, propofol, dissociative agents, opioids, nondepolarizing neuromuscular blockers, or a combination of intravenous and local or regional anesthesia. Sufficient premedication is important, since stress can be a contributing factor to development of clinical signs (Brunson and Hogan, 2004). [IT thanks DVM student Jianjian Gong for suggested changes in April 2022]","defect":true,"group_name":"Malignant hyperthermia","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":621,"omia_phene_id":1191,"omia_record_id":"OMIA:000621-9615","publication_ids":[16849,33032,71817,77331,79264,98179,108713,110538,112127,112128,112129,112130,112131,112132,112133,112134,112135,112136,112137,112138,112139,112472,118058,123296,123297,124287,126635,127689,127690,128300,128910,130670],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1191","source_release":"retrieved-2026-09-12","summary":"Malignant hyperthermia is a disorder of skeletal muscle characterized by hypercapnea, tachycardia, and hyperthermia in response to a chemical trigger, and can be fatal. It is an autosomal dominant trait caused by a mutation in the skeletal muscle ryanodine receptor. The omia.variant:54 variant has been identified in several breeds. Affected dogs show no clinical signs until exposed to chemical triggers, which are common anesthetic agents. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Megakaryoblastic leukaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":630,"omia_phene_id":1209,"omia_record_id":"OMIA:000630-9615","publication_ids":[40128],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1209","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200530"},{"name":"Goldendoodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200611"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"},{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"},{"name":"Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201185"},{"name":"Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201287"},{"name":"White Swiss Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201423"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Megaoesophagus, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Congenital idiopathic megaesophagus","omia_group_id":631,"omia_phene_id":1211,"omia_record_id":"OMIA:000631-9615","publication_ids":[7663,11255,44195,46244,48397,50710,51642,58319,67630,73673,74803,75711,78646,85059,87421,90638,98566,98680,103256,111881,114629,116849,123131,124674,125182,125183,125184,125185,125186,125187,126846,127594,130288],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1211","source_release":"retrieved-2026-09-12","summary":"For detailed information on megaoesophagus in German Shepherd dogs due to variants in the MCHR2 gene see '<a href=\"../../../../../../OMIA002716/9615/\">OMIA:002716-9615</a> : Megaoesophagus, MCHR2-related in Canis lupus familiaris'","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Microphthalmia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":649,"omia_phene_id":1234,"omia_record_id":"OMIA:000649-9615","publication_ids":[6726,7015,7518,25053,52616,78479,109812,118120,125219,127459,130531],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1234","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Mislocated polydontic maxillary incisor teeth","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":652,"omia_phene_id":1240,"omia_record_id":"OMIA:000652-9615","publication_ids":[45980],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1240","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Mitral stenosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":653,"omia_phene_id":1241,"omia_record_id":"OMIA:000653-9615","publication_ids":[45442,50905,51062,75213,109907,125307,127132],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1241","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Borzoi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200197"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myxomatous valvular degeneration","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"Myxomatous mitral valve disease","omia_group_id":654,"omia_phene_id":1242,"omia_record_id":"OMIA:000654-9615","publication_ids":[31521,36089,45225,66676,71135,73537,83800,86304,87733,96522,103347,103760,105170,106995,107298,108813,108948,110396,110498,112277,112278,112279,112280,112281,112282,112283,112284,112285,112286,112287,112288,112289,112290,112291,112292,112293,112294,112295,113593,114091,114614,115469,115945,116248,116283,116773,116950,116996,117012,117022,117028,117078,117097,117107,117305,117306,117312,117315,117342,117345,117349,117368,117915,118049,119763,120424,120527,120859,121657,121813,122003,122036,122045,122070,122292,122422,122455,122569,122646,122871,123007,123016,123023,123038,123040,123073,123075,123932,123933,123934,123974,124003,124105,124110,124168,124185,124281,124310,124321,124443,124482,124503,124541,124584,124585,124649,124743,124853,125082,125307,125371,125609,125722,125832,125845,125859,125872,125912,125977,126040,126163,126164,126170,126279,126359,126427,126435,126453,126463,126508,126518,126561,126581,126615,126667,126756,126892,126914,127023,127076,127080,127129,127145,127147,127148,127321,127471,127548,127552,127582,127634,127754,128021,128052,128251,128390,128433,128497,128643,128657,128666,128706,128831,129031,129109,129114,129193,129234,129272,129333,129377,129527,129552,129701,129845,130128,130175,130193,130361,130374,130396,130397,130539,130635,130760,130770,130790,131075,131139,132031,132124,132368,132418,132500,132541,132554,132577,132579,132765,132776,132789,132797,132811,132824,132852,132886,132901,132932,132992,133072,133100,133107,133157,133160,133250,133283,133284,133286,133307,133309,133406,133422,133480,133494,133535,133559],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1242","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chesapeake Bay Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200326"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Miniature Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200893"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Toy (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201061"},{"name":"Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201406"}],"characterised":true,"characterised_year":2004,"clinical_features":"","defect":true,"group_name":"Mucopolysaccharidosis VI","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009661","iri":"http://purl.obolibrary.org/obo/MONDO_0009661","label":"mucopolysaccharidosis type 6"}],"name":"MPS VI","omia_group_id":666,"omia_phene_id":1256,"omia_record_id":"OMIA:000666-9615","publication_ids":[107366,107774,112553,112991,116004,117831,117832,120540,120970,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1256","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Brazilian Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200231"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":true,"characterised_year":1998,"clinical_features":"At 4 weeks of age, affected dogs show a shortened, broad face, low-set ears, and a laterally broad chest.  By 8 weeks of age, diffuse corneal clouding is apparent.  At 9 weeks of age, affected dogs are half as large as their normal littermates, but have disproportionately large heads.  Polymorphonuclear leukocytes and lymphocytes from affected animals contain coarse cytoplasmic granules that stain with toluidine blue.  Urine from affected animals contain excessive chondroitin 4- and 6-sulfates and dermatan and heparan sulfates.  By 2 to 5 months of age, affected dogs have trouble standing but can move in sternal recumbency.  Most joints are easily subluxated and crepitant, with swollen, fluctuant joint capsules filled with excessive synovial fluid.  There is significant epiphyseal dysplasia.  Cardiac abnormalities, primarily mitral insufficiency and aortic aneurism can be present but are variable (Haskins et al., 1991).","defect":true,"group_name":"Mucopolysaccharidosis VII","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009662","iri":"http://purl.obolibrary.org/obo/MONDO_0009662","label":"mucopolysaccharidosis type 7"}],"name":"","omia_group_id":667,"omia_phene_id":1258,"omia_record_id":"OMIA:000667-9615","publication_ids":[10865,18350,22345,28868,69069,80449,84031,85223,91157,102426,107138,107236,107362,107686,109071,109072,109075,109097,109348,110551,112313,112314,112595,112991,113761,114575,114613,114614,114989,115348,115528,116186,116187,120515,120540,120744,120746,121340,121794,122166,122255,123926],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1258","source_release":"retrieved-2026-09-12","summary":"Mucopolysaccharidosis VII is a lysosomal storage disease characterized by accumulation of undegraded glycosaminoglycans (dermatan, heparan, and chondroitin sulfates) in lysosomes.  Clinical signs include facial dysmorphia, diffuse corneal clouding, appendicular and axial skeletal lesions, and glycosaminoglycans in urine. Affected animals are deficient in the enzyme beta-glucuronidase, which is a lysosomal acid hydrolase.  Affected animals have very low enzyme activity compared to normal animals, and carriers have 40-60% enzyme activity compared to normal animals.\r\nThe mode of inheritance is autosomal recessive. The causative mutation is a G to A substitution in the gene coding for the hydrolase, beta-glucuronidase (GUSB). There is a test available to detect the causative mutation. Testing siblings of affected dogs is recommended.  Breeding of carriers or affected dogs is not recommended.\r\n\r\nEdited by Mark Haskins, VMD, Ph.D","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Grand Basset Griffon Vendeen (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200615"},{"name":"Irish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200704"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Rat Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201125"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":false,"characterised_year":null,"clinical_features":"Affected dogs develop clinical signs at 8 to 10 weeks of age. Signs include a shuffling gait or shortened stride (“bunny hopping”), inability to completely open the jaw, difficulty eating, thickening of the base of the tongue, excessive salivation, abduction of front paws, adduction of stifles and hocks, and prominent wasting of temporal and trunk muscles (Shelton, 2004; Valentine et al., 1992; Kornegay et al., 2011). Other signs include spinal and costal curvature, resulting in a crouched posture (Valentine et al., 1992). Elevated serum creatine kinase concentrations (up to 300 times greater than normal) begins during the first week of life age, and is exacerbated by exercise (Valentine et al., 1992). In breeds where a mutation has not been reported, affected dogs can be tentatively diagnosed by immunohistochemical tests for the presence or absence of dystrophin protein in skeletal muscle biopsy (Shelton and Engvall 2002).","defect":true,"group_name":"Muscular dystrophy","inheritance":null,"inheritance_text":"Carrier females usually do not show clinical signs. However, due to random X inactivation, they can occasionally present with limb weakness and highly elevated serum creatine kinase, or show changes on electromyography or biopsy (Shelton et al., 2004; Kornegay et al., 2011).","mondo_terms":[],"name":"","omia_group_id":679,"omia_phene_id":1271,"omia_record_id":"OMIA:000679-9615","publication_ids":[13512,18367,20507,23600,25120,26032,27432,30692,42497,43424,45804,46482,47217,50968,50998,51710,67210,76630,80697,91002,99184,110209,110251,121028],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1271","source_release":"retrieved-2026-09-12","summary":"This is the canine homologue of human Duchenne muscular dystrophy, which is caused by mutations in the dystrophin gene and is characterized by progressive weakness and muscle wasting that is ultimately fatal. Clinical signs begin at 8-10 weeks of age. Absence of the dystrophin protein causes sarcolemma dysfunction, muscular hypercontraction, and ultimately, muscle fiber degeneration. The mode of inheritance is X-linked recessive. Genetic tests are available. \r\n\r\nEdited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Australian Labradoodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200092"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Entlebucher Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200503"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Grand Basset Griffon Vendeen (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200615"},{"name":"Irish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200704"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Japanese Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200740"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Rat Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201125"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"},{"name":"Shiba Inu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201220"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":1992,"clinical_features":"Affected dogs develop clinical signs at 8 to 10 weeks of age. Signs include a shuffling gait or shortened stride (“bunny hopping”), inability to completely open the jaw, difficulty eating, thickening of the base of the tongue, excessive salivation, abduction of front paws, adduction of stifles and hocks, and prominent wasting of temporal and trunk muscles (Shelton, 2004; Valentine et al., 1992; Kornegay et al., 2011). Other signs include spinal and costal curvature, resulting in a crouched posture (Valentine et al., 1992). Elevated serum creatine kinase concentrations (up to 300 times greater than normal) begins during the first week of life age, and is exacerbated by exercise (Valentine et al., 1992). In breeds where a mutation has not been reported, affected dogs can be tentatively diagnosed by immunohistochemical tests for the presence or absence of dystrophin protein in skeletal muscle biopsy (Shelton and Engvall 2002).","defect":true,"group_name":"Muscular dystrophy, Duchenne type","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"Carrier females usually do not show clinical signs. However, due to random X inactivation, they can occasionally present with limb weakness and highly elevated serum creatine kinase, or show changes on electromyography or biopsy (Shelton et al., 2004; Kornegay et al., 2011).","mondo_terms":[{"id":"MONDO:0010679","iri":"http://purl.obolibrary.org/obo/MONDO_0010679","label":"Duchenne muscular dystrophy"}],"name":"X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy","omia_group_id":1081,"omia_phene_id":1277,"omia_record_id":"OMIA:001081-9615","publication_ids":[15076,17102,20652,27432,30692,32431,32792,33766,45054,60116,62569,64424,67210,76630,85009,86100,86738,87417,89150,89577,91259,94175,95585,96366,97059,99012,100748,100905,102790,103059,105572,105973,106251,106959,107233,107294,107295,107297,107337,108795,109291,109360,109361,109362,109377,109398,109409,109410,109453,110002,110019,110203,110204,110205,110206,110207,110209,110210,110211,110251,110489,110490,110797,110799,110800,110801,110806,111651,112140,112141,112142,112143,112144,112145,112538,112539,112540,112541,112542,112543,112544,113815,114989,115029,115030,115031,115032,115033,115034,115035,115036,115037,115038,115039,115068,115290,115291,115357,115393,115395,115456,115471,115544,115873,115874,115875,115877,115878,115938,115939,116171,116297,116326,116444,116727,116816,116823,116883,116936,117029,117320,117445,117544,117549,117608,117670,117703,117778,117913,117998,118053,118148,118149,118150,118153,118224,119354,119992,120488,120515,120540,120722,120858,120892,120893,120894,120946,121192,121356,121407,121765,121992,122016,122170,122233,122572,122713,122999,123028,123087,123126,123243,123541,123639,123643,123894,123895,123931,124093,124301,124409,124552,124691,125051,125727,125728,125732,126278,126420,126424,126684,126743,127372,127767,128081,128399,128548,128603,128787,128876,129081,129162,129796,130059,130116,130180,130198,130420,130425,130740,130814,130816,130817,130818,131150,132255,133331],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1277","source_release":"retrieved-2026-09-12","summary":"Also known as Golden Retriever Muscular Dystrophy (GRMD), because this is the breed in which this disorder was first documented. This is the canine homologue of human Duchenne muscular dystrophy, which is caused by mutations in the dystrophin gene and is characterized by progressive weakness and muscle wasting that is ultimately fatal. Clinical signs begin at 8-10 weeks of age. Absence of the dystrophin protein causes sarcolemma dysfunction, muscular hypercontraction, and ultimately, muscle fiber degeneration. The mode of inheritance is X-linked recessive. Edited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT.<br>All known canine DMD variants that cause Duchenne or Becker like muscular dystrophy are listed in this entry.<br>This phene includes references to studies involving genetically modified organisms (GMO).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Muscular dystrophy, dysphagia-associated","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":681,"omia_phene_id":1278,"omia_record_id":"OMIA:000681-9615","publication_ids":[47235,123720],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1278","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myasthenia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":684,"omia_phene_id":1284,"omia_record_id":"OMIA:000684-9615","publication_ids":[9065,10555,17434,19597,32696,48771,53503,58186,64453,65487,74327,76517,78649,78839,80980,82994,87392,87590,87630,90074,93447,95512,99189,107600,110223,117325,120841,123287,129795,130876],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1284","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Brussels Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200241"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Dachshund, Miniature Wire-Haired (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200411"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201029"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"}],"characterised":true,"characterised_year":2005,"clinical_features":"","defect":true,"group_name":"Myoclonus epilepsy of Lafora","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":690,"omia_phene_id":1293,"omia_record_id":"OMIA:000690-9615","publication_ids":[7171,10133,12037,99979,107180,107234,112474,114091,114990,117181,117301,117673,119034,119978,121854,122425,122454,122714,126861,127575,127716,127717,127718,127719,127721,128324,128691,128692],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1293","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Irish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200704"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myopathy, sex-linked","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":692,"omia_phene_id":1297,"omia_record_id":"OMIA:000692-9615","publication_ids":[111522],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1297","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myopathy, congenital","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":694,"omia_phene_id":1299,"omia_record_id":"OMIA:000694-9615","publication_ids":[41212],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1299","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myopathy, mitochondrial","inheritance":{"code":"MIT","name":"Mitochondrial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":695,"omia_phene_id":1300,"omia_record_id":"OMIA:000695-9615","publication_ids":[74778,124008,124009,128023],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1300","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Silky Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201237"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myopathy, progressive, subacute","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":696,"omia_phene_id":1301,"omia_record_id":"OMIA:000696-9615","publication_ids":[47380],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1301","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Afghan Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200004"},{"name":"Airedale Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200008"},{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Cockapoo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200370"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Dogo Argentino (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200445"},{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"},{"name":"Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201287"},{"name":"Wirehaired Pointing Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201427"}],"characterised":true,"characterised_year":1999,"clinical_features":"Dogs with familial narcolepsy may show signs between 4 weeks to 6 months of age. Affected dogss are sleepy, and cannot maintain long stretches of wakefulness. Affected dogs fall asleep faster than normal dogs. Narcolepsy is neither progressive nor life-threatening (Tonokura et al., 2007). In response a positive emotional stimulus (such as food or play) affected animals experience cataplexy, which is a sudden loss of muscle tone without loss of consciousness (Tonokura et al., 2007). During an attack of cataplexy, common first signs are buckling of both hindlimbs and drooping of the neck. The dog then collapses and is still for a period of seconds to minutes. The muscles are always flaccid during attacks. Dogs usually remain conscious and open-eyed during attacks, and are capable of following objects with their eyes. If an attack lasts for longer than a couple of minutes, the dog may fall asleep. Cataplexy can often be treated with tricyclic antidepressants such as imipramine or clomipramine (Tonokura et al., 2007). Prazosin and physostigmine increase cataplexy in narcoleptic dogs and lower hypocretin levels in normal dogs. Methamphetamine, labetalol, and phenylephrine decrease cataplexy in narcoleptic dogs and raise hypocretin levels in normal dogs (Wu et al., 2011).","defect":true,"group_name":"Narcolepsy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"The disorder shows classic autosomal recessive inheritance (Foutz et al., 1979).","mondo_terms":[],"name":"","omia_group_id":703,"omia_phene_id":1311,"omia_record_id":"OMIA:000703-9615","publication_ids":[12101,13316,13318,15946,17198,17491,23404,24013,25283,26369,31364,32393,32566,36674,37103,43099,47420,47887,51174,55707,55891,60707,61152,64663,68666,70227,70687,73110,75028,75932,77081,77598,79622,84857,85204,86624,87179,88844,95967,96397,97143,98861,101178,101366,105881,106811,107043,107221,109336,109337,109338,109502,112833,112834,112835,112836,112837,112838,112839,112840,112841,112842,112843,112844,112845,112846,112847,112848,112849,115060,121353,122426,127540,128324,129645],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1311","source_release":"retrieved-2026-09-12","summary":"Narcolepsy is a sleep disorder characterized by shortened sleep latency and cataplexy. Genetic tests are available to detect the causative mutations in HCRTR2.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Nederlandse Kooikerhondje (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200932"}],"characterised":true,"characterised_year":2023,"clinical_features":"Mandigers et al. (2023): \"The clinical signs, paresis and ataxia, start in most [affected Kooiker] dogs around the age of 3–12 months in the hind limbs and progresses to tetraparalysis before the age of 2 years.\"","defect":true,"group_name":"Necrotising myelopathy, IBA57-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Mandigers et al. (2023): \"Pedigree analysis indicated that the disease is inherited as an autosomal recessive trait, probably originating from a single founder (Mandigers et al., 1993)\"","mondo_terms":[],"name":"Hereditary necrotizing myelopathy","omia_group_id":706,"omia_phene_id":1315,"omia_record_id":"OMIA:000706-9615","publication_ids":[35218,124915,124916,125650,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1315","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Nephritis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":708,"omia_phene_id":1321,"omia_record_id":"OMIA:000708-9615","publication_ids":[62141,101412],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1321","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Nephropathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"References relating to chronic kidney disease are included in this entry.","omia_group_id":710,"omia_phene_id":1323,"omia_record_id":"OMIA:000710-9615","publication_ids":[15028,17093,50732,72842,73204,73348,73441,91263,107333,114034,121581,123389,124075],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1323","source_release":"retrieved-2026-09-12","summary":"Information relating to autosomal recessive hereditary nephropathy due to COL4A4 variants have been moved to \"OMIA:002618-9615 : Nephropathy, COL4A4 related in Canis lupus familiaris\" [1/2/2023]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Nephrotic syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":712,"omia_phene_id":1327,"omia_record_id":"OMIA:000712-9615","publication_ids":[43370,48206,54865,56715,65812,76638,111815,111816,111818,111819,111820,111821,111822,111824,111825,111826,111827,111829,111830,111832,111833,111834],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1327","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201029"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Nervous","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":713,"omia_phene_id":1328,"omia_record_id":"OMIA:000713-9615","publication_ids":[18110,20960,33198,46690,107300],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1328","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neuroaxonal dystrophy, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":715,"omia_phene_id":1331,"omia_record_id":"OMIA:000715-9615","publication_ids":[38369,78571,109270,113798,117277],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1331","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200494"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neurogenic muscular atrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":719,"omia_phene_id":1336,"omia_record_id":"OMIA:000719-9615","publication_ids":[19439],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1336","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Briard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200234"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Day blindness","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":726,"omia_phene_id":1344,"omia_record_id":"OMIA:000726-9615","publication_ids":[31307,38909,54486,59958],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1344","source_release":"retrieved-2026-09-12","summary":"References relating to hemeralopia in Alsakan Malamutes have been moved to 'OMIA 001365-9615 : Achromatopsia-3, CNGB3-related in Canis lupus familiaris' [20/10/2022]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Nystagmus, congenital","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":731,"omia_phene_id":1348,"omia_record_id":"OMIA:000731-9615","publication_ids":[54119,89758,125219],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1348","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Occipital dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":732,"omia_phene_id":1349,"omia_record_id":"OMIA:000732-9615","publication_ids":[40179,48052,70347,127892],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1349","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Akita (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200010"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Multiple ocular defects","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"see also OMIA:002811-9615 : Multiple ocular defects, COL11A1-related in Canis lupus familiaris (dog)","omia_group_id":733,"omia_phene_id":1351,"omia_record_id":"OMIA:000733-9615","publication_ids":[8984,109233,118120,126676,126677,126678,126679,127459],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1351","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Oesophageal motility disorder","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"megaesophagus","omia_group_id":738,"omia_phene_id":1359,"omia_record_id":"OMIA:000738-9615","publication_ids":[52893],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1359","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Optic chiasm, absence of","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1116,"omia_phene_id":1365,"omia_record_id":"OMIA:001116-9615","publication_ids":[56954],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1365","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Optic nerve hypoplasia, bilateral","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":743,"omia_phene_id":1366,"omia_record_id":"OMIA:000743-9615","publication_ids":[5107,111550,111551,111552,111553,111554,122081,125219],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1366","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists (2021): \"a congenital anomaly, which results in a small optic disk diameter and vision loss.Contrast with micropapilla, which may have a similar ophthalmoscopic appearance but without loss of vision.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Orchitis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":745,"omia_phene_id":1367,"omia_record_id":"OMIA:000745-9615","publication_ids":[111549,124684,125457,129307],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1367","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Osmotic resistance of erythrocytes","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":746,"omia_phene_id":1368,"omia_record_id":"OMIA:000746-9615","publication_ids":[9248],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1368","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Osteoarthritis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":747,"omia_phene_id":1370,"omia_record_id":"OMIA:000747-9615","publication_ids":[40667,66756,67386,67829,70137,71940,74485,74601,74791,74855,75816,75833,75881,75882,75911,75912,75935,75947,75948,75966,75991,76878,77488,77489,84689,84999,85255,87171,87244,87570,88278,91644,91981,94405,102316,104606,105945,106004,106954,108485,108633,108943,109452,109881,110037,110212,116559,117677,118985,119249,119615,119746,120390,122191,122955,123633,124098,124372,124543,125046,125102,125682,125890,126616,127549,130092,130557,132468,132538,132646,132647],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1370","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200255"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Dogue de Bordeaux (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200450"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Irish Wolfhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200706"},{"name":"Kuvasz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200793"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"},{"name":"Tibetan Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201351"},{"name":"Vizsla (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201389"}],"characterised":false,"characterised_year":null,"clinical_features":"Clinical features of OCD include lameness, lameness worsened during exercise, stiffness and pain in affected joints, decreased activity levels, loss of muscle mass in affected limbs, and possible crepitus (Everts et al., 2000; van der Peijl et al. 2012; Biezyński et al., 2012; Wall et al., 2014; Murphy et al., 2019; Vezzoni and Benjamino, 2021).\r\n[IT thanks DVM student Ashley Turi, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Osteochondritis dissecans","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":748,"omia_phene_id":1373,"omia_record_id":"OMIA:000748-9615","publication_ids":[21442,35056,35192,42179,50130,60224,63301,63449,68298,76689,79478,86152,86407,90993,92229,94074,94303,109843,109856,110725,111894,112466,112955,123358,123359,123360,123361],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1373","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Osteochondroma causing progressive posterior paresis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":749,"omia_phene_id":1375,"omia_record_id":"OMIA:000749-9615","publication_ids":[40370],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1375","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Osteochondrosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":750,"omia_phene_id":1376,"omia_record_id":"OMIA:000750-9615","publication_ids":[7367,10004,20358,22528,26799,35628,36740,37360,37429,38222,40512,43163,47582,62716,66582,67947,70557,70646,75327,76781,77647,79481,79497,79510,79511,79539,79566,79571,79572,84156,86078,88245,102023,108614,108666,109843,110726,112091,112907,113302,117355,125025,125334,127603],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1376","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Osteochondrosis dissecans (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":751,"omia_phene_id":1379,"omia_record_id":"OMIA:000751-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1379","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200492"},{"name":"Finnish Lapphund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200523"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Osteogenesis imperfecta, generic","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":754,"omia_phene_id":1384,"omia_record_id":"OMIA:000754-9615","publication_ids":[7946,9358,26862,75740,91047,121810,125155],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1384","source_release":"retrieved-2026-09-12","summary":"See also entries for osteogenesis imperfecta for which likely causal variants have been identified, e.g., \"<a href=\"../../../../../../OMIA002112/9615/\">OMIA:002112-9615</a> Osteogenesis imperfecta, COL1A2-related'; '<a href=\"../../../../../../OMIA001483/9615/\">OMIA:001483-9615</a> Osteogenesis imperfecta, SERPINH1-related' and '<a href=\"../../../../../../OMIA002126/9615/\">OMIA:002126-9615</a> Osteogenesis imperfecta, type III, COL1A1-related'","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pancreatic insufficiency, exocrine","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"Pancreatic acinar atrophy","omia_group_id":765,"omia_phene_id":1399,"omia_record_id":"OMIA:000765-9615","publication_ids":[13257,18583,39675,48987,58728,70517,79597,81932,88917,90569,91386,94671,96204,100450,101790,102370,103233,107059,107352,107517,107599,108794,108949,111881,111886,111887,111888,111889,111890,111891,111892,113007,113532,113534,113535,114812,122650,125535],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1399","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Toy Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200498"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Patellar luxation","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Patellar luxation is a classic quantitative (multifactorial) trait. Srinarang et al. (2018) reported a SNP in the Dystroglycan 1 (DAG1) gene that showed an association with the disorder in the Chihuahua breed. It is, therefore, possible that this gene is one of the many quantitative trait loci (QTL) that contribute to genetic variation in liability for this disorder.","mondo_terms":[],"name":"","omia_group_id":778,"omia_phene_id":1410,"omia_record_id":"OMIA:000778-9615","publication_ids":[3005,3006,27128,35179,40690,44409,46153,51224,56560,56858,61356,61444,75432,79623,83177,85995,88609,90113,91034,92373,99872,100539,100807,102023,107435,108601,113209,114091,114175,114910,115442,115603,115604,115605,115606,115607,115608,115609,115610,115611,115612,115613,115614,116822,116881,116998,117484,117490,117693,118049,118061,118192,118819,120426,122033,123325,123326,123327,123328,124323,125025,125541,126010,126619,128721,129956,130453,132133,132599,133032,133404,133411,133505,133535],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1410","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Patent ductus arteriosus","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011827","iri":"http://purl.obolibrary.org/obo/MONDO_0011827","label":"patent ductus arteriosus"}],"name":"","omia_group_id":779,"omia_phene_id":1413,"omia_record_id":"OMIA:000779-9615","publication_ids":[7643,7751,13236,15147,17467,22595,29400,36699,47089,58274,60764,61951,63183,64446,69050,75897,80802,81382,84418,84719,85475,87822,89300,92302,92580,95109,99430,101862,102101,104280,105668,107263,109396,110024,110025,110026,110028,110029,110244,113593,114091,115389,116136,116834,117023,117382,118049,120859,123017,125307,126179,128113,129566,129710,130789],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1413","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Patent ductus arteriosus and pulmonary hypertension","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":780,"omia_phene_id":1417,"omia_record_id":"OMIA:000780-9615","publication_ids":[30729,36260],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1417","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Basenji (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200120"},{"name":"Black and Tan Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200168"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boston Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200204"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Danish/swedish Farm Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0000663"},{"name":"Foxhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200531"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Redbone Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201132"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"}],"characterised":false,"characterised_year":null,"clinical_features":"PHA is a leucocyte development-disorder, in which granulocytes and monocytes show hyposegmentation of the nuclei with a mature, coarse chromatin pattern (Latimer et al. 2000). Those changes are without any clinical relevance, but frequently lead to misdiagnosis as marked left shift, which is normally caused by inflammation, preleucaemic syndrome or drug induced changes in leucocyte morphology.","defect":true,"group_name":"Pelger-Huet anomaly","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":783,"omia_phene_id":1422,"omia_record_id":"OMIA:000783-9615","publication_ids":[9205,78453,93076,120699,120700,120701,120702,125302,130215],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1422","source_release":"retrieved-2026-09-12","summary":"Human Pelger-Huët anomaly is caused by heterozygous variants in the LBR gene and characterized by hyposegmentation of granulocytes. Bi-allelic loss of function of the LBR gene in humans results in Greenberg skeletal dysplasia, a severe condition involving prenatal lethality. All literature before 2023 hypothesized that dogs with hyposegmentation of granulocytes represent true homologs of the human Pelger-Huët anomaly, but the underlying causal genetic variant in dogs was unknown. Lourdes Frehner et al. (2023) demonstrated that a common form of hyposegmentation of granulocytes in dogs is actually caused by a variant in the LMBR1L gene (OMIA:002700-9615). Lourdes Frehner et al. (2023) proposed to reserve the term Pelger-Huët anomaly for LBR-related forms of hyposegmentation of granulocytes. At this time, it is not clear whether a true LBR-related form of PHA has ever been observed in dogs.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Persistence of immature pyruvate kinase and hexokinase isozymes","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":790,"omia_phene_id":1430,"omia_record_id":"OMIA:000790-9615","publication_ids":[13154],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1430","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Maltese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200856"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Persistent Mullerian duct syndrome, generic","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009857","iri":"http://purl.obolibrary.org/obo/MONDO_0009857","label":"persistent Mullerian duct syndrome"}],"name":"Persistent Müllerian Duct Syndrome","omia_group_id":791,"omia_phene_id":1432,"omia_record_id":"OMIA:000791-9615","publication_ids":[629,14748,29859,38840,42812,72647,107331,108444,108833,109206,109393,109483,109484,111421,111593,111594,111595,118093,119914,122155,124312,125469,125653,127728,127729],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1432","source_release":"retrieved-2026-09-12","summary":"Information related to persistent Mullerian duct syndrome due to AMHR2 variants previously listed here has been moved to <a href=\"../../../../../../OMIA002775/9615/\">OMIA:002775-9615</a> Persistent Mullerian Duct Syndrome, AMHR2-related [20/09/2023].","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Persistent right aortic arch","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":794,"omia_phene_id":1436,"omia_record_id":"OMIA:000794-9615","publication_ids":[8073,9904,82553,94033,99928,107613,113137,113593],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1436","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pneumothorax","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":804,"omia_phene_id":1447,"omia_record_id":"OMIA:000804-9615","publication_ids":[39846,64562,101117,106511,109659,109661,109662,109663,122393],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1447","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polyarthritis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":805,"omia_phene_id":1449,"omia_record_id":"OMIA:000805-9615","publication_ids":[44789,102143,112248,112249,112250,112251,112252,112253,112254,112255,112256,112257,126475,129711],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1449","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polycystic mononephrosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":808,"omia_phene_id":1457,"omia_record_id":"OMIA:000808-9615","publication_ids":[4649],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1457","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Lundehund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200838"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"},{"name":"Sapsari (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201177"},{"name":"Schnauzer, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201189"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Tosa (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201357"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2008,"clinical_features":"Park et al. (2008): “Canine preaxial polydactyly (PPD) in the hind limb is a developmental trait that restores the first digit lost during canine evolution. … As described previously (Park et al. 2004), the restored phenotype is slightly overmanifested, generating one or more preaxial digits. As a matter of fact, the external morphology of hind-limb-specific canine PPD is slightly different from other polydactylies in that only the claw is observed as having an extra digit with fibrous tissue connecting the region between the tarsal and the first metatarsal bones, which either is reduced in size or is incomplete with a lesser deposit of bony material (Miller 1979; Park et al. 2004).”","defect":true,"group_name":"Polydactyly","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Dew claws, canine preaxial polydactyly","omia_group_id":810,"omia_phene_id":1462,"omia_record_id":"OMIA:000810-9615","publication_ids":[7943,8509,9853,123025,123026,123171,123172,123173,127757,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1462","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polyneuropathy, distal sensorimotor","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":813,"omia_phene_id":1469,"omia_record_id":"OMIA:000813-9615","publication_ids":[48151,109106],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1469","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Portal vein hypoplasia, congenital","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1095,"omia_phene_id":1476,"omia_record_id":"OMIA:001095-9615","publication_ids":[51078],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1476","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Portosystemic shunt","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"From a pedigree analysis on extra-hepatic shunts in the Maltese breed, involving 19 affecteds, 94 confirmed normals, and a further 186 related dogs with unknown shunt status (including affecteds and normals involved in, and produced from, eight planned matings), O'Leary et al. (2014) estimated heritability on the binary scale to be 61%, which is equivalent to 9% on the underlying liability scale. Segregation analysis was weakly suggestive of a single (recessive) gene of large effect, but the results of the planned matings indicated substantial departure from autosomal recessive inheritance.","mondo_terms":[],"name":"","omia_group_id":817,"omia_phene_id":1479,"omia_record_id":"OMIA:000817-9615","publication_ids":[38749,48851,52683,55658,58514,59888,59947,60090,60779,61861,62749,62887,65129,65714,67520,68989,71709,72566,74707,77221,79635,80257,80302,80341,80702,80749,81030,81150,81518,81555,81949,82286,82754,83040,85012,85249,85560,85724,86415,86514,88978,89052,89510,89711,92047,92211,92913,93466,94544,94764,95093,98580,99844,100985,101764,101864,102695,103303,103689,105550,105800,105906,105943,106335,106500,106923,106997,107119,107125,107284,107605,107623,107630,107923,108824,109165,109296,110308,111898,112550,113233,113236,113237,113238,113240,114091,114170,114187,114661,115190,115191,115192,115440,115548,115550,115949,116001,116295,116324,116347,118049,122668,123556,124103,124107,124108,124151,124182,124276,124576,127071,127954,129054,132423],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1479","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":true,"characterised_year":2011,"clinical_features":"Prekallikrein (PK) is a protein that is involved in the blood clotting process. As a result, dogs with a PK deficiency experience prolonged activated partial thromboplastin Time (aPPT) (Okawa et al., 2011). This disorder is often asymptomatic in the absence of other clotting factor deficiencies (Chin et al., 1986). Classical signs of haemostatic disorders such as haematuria and prolonged bleeding or healing times after surgery have been reported but are unlikely unless there is concurrent disease (Chinn et al. 1986). Gastrointestinal bleeding has also been reported in a dog with this disorder (Otto et al., 1991). \r\nIT thanks DVM student Eloise O’Connor, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Prekallikrein deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012901","iri":"http://purl.obolibrary.org/obo/MONDO_0012901","label":"inherited prekallikrein deficiency"}],"name":"","omia_group_id":819,"omia_phene_id":1484,"omia_record_id":"OMIA:000819-9615","publication_ids":[23152,109300,125168,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1484","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Prognathism","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":823,"omia_phene_id":1490,"omia_record_id":"OMIA:000823-9615","publication_ids":[111653,111654],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1490","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Axonopathy, progressive","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":825,"omia_phene_id":1492,"omia_record_id":"OMIA:000825-9615","publication_ids":[3046,34613,109916,109917,109918,109920],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1492","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":830,"omia_phene_id":1498,"omia_record_id":"OMIA:000830-9615","publication_ids":[7183,7490,8020,8084,8297,9115,9516,9629,9729,9756,10601,11819,15520,15739,23675,28695,52340,53785,60849,60954,66640,72523,76180,76477,76687,79233,80771,81846,82767,84099,85054,85197,85653,91399,92839,94278,101490,101875,103020,104659,106428,107020,107042,107290,107593,108328,108451,109378,114807,114901,116317,116991,118934,121655,121881,121882,121883,121884,121972,124662,124796,125653,126404,129719,129732,129746],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1498","source_release":"retrieved-2026-09-12","summary":"Many different forms of progressive retinal atrophy (PRA) exist and more than 10 different genes have been identified so far in dogs to have likely causal variants for PRA. Please review OMIA for other variants. Information relating to PRA due to a variant in the CNGB1 gene was previously listed here but has been moved to 'OMIA:002723-9615 : Retinal atrophy, progressive, CNGB1-related in Canis lupus familiaris' [16/06/2023].","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2002,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, X-linked, type 1","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":831,"omia_phene_id":1500,"omia_record_id":"OMIA:000831-9615","publication_ids":[50018,88634,91702,108326,108327,108764,111395,111399,111400,112004,112019,112345,116619,116802,117861,120497,120515,122028,122029,124948,125219,126404,129012,129668,129719,129760,130075,130892],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1500","source_release":"retrieved-2026-09-12","summary":"The difference between XLPRA1 (this entry) and XLPRA2 (<a href=\"https://omia.org/OMIA001518/9615/\">OMIA:001518-9615</a>) is summarised by Appelbaum et al. (2020) as \"XLPRA1-affected dogs have normal PR morphogenesis, after which progressive rod–cone degeneration develops in the peripheral retina, gradually advancing toward the optic disc. . . . The phenotype associated with XLPRA2 is very severe and manifests during early retinal development.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basenji (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200120"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Toy American Eskimo Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201358"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":true,"characterised_year":1994,"clinical_features":"Affected dogs present as young adults with signs of severe macrocytic hypochromic regenerative hemolytic anemia, such as intermittent weakness. Moderate hepatosplenomegaly occurs by one year of age, followed by progressive osteosclerosis and myelofibrosis. Bone marrow and liver failure typically occur by 5 years of age. Carriers have no clinical signs, but have half-normal levels of erythrocyte pyruvate kinase activity (Giger et al., 1991). Bone marrow transplants have been used to alleviate clinical signs in affected dogs (Takatu et al., 2003).","defect":true,"group_name":"Pyruvate kinase deficiency of erythrocyte","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009950","iri":"http://purl.obolibrary.org/obo/MONDO_0009950","label":"pyruvate kinase deficiency of red cells"}],"name":"","omia_group_id":844,"omia_phene_id":1515,"omia_record_id":"OMIA:000844-9615","publication_ids":[7959,8255,23362,23775,27521,32128,50122,62361,86989,87400,109156,110462,112644,112645,114155,127595,132132],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1515","source_release":"retrieved-2026-09-12","summary":"In pyruvate kinase deficiency, the erythrocyte life span is markedly reduced, which leads to severe regenerative hemolytic anemia. Clinical signs include intermittent weakness, moderate hepatosplenomegaly at less than one year of age and bone marrow and liver failure by 5 years of age. Pyruvate kinase deficiency has been identified in multiple breeds. The mode of inheritance is autosomal recessive. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Quadriplegia and amblyopia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":845,"omia_phene_id":1516,"omia_record_id":"OMIA:000845-9615","publication_ids":[47379],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1516","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Renal insufficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":859,"omia_phene_id":1528,"omia_record_id":"OMIA:000859-9615","publication_ids":[51581,79283],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1528","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Renal nephropathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":860,"omia_phene_id":1529,"omia_record_id":"OMIA:000860-9615","publication_ids":[13504],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1529","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal degeneration II","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1244,"omia_phene_id":1537,"omia_record_id":"OMIA:001244-9615","publication_ids":[8211,8262,8850,9005,9344,20072,20127,63140,66058,66288,76180,76477,80200],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1537","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"Signs include monomorphic ventricular arrhythmias, syncope, and sudden cardiac death. Magnetic resonance imaging (MRI) demonstrates right ventricular dilation and aneurysms, reduced right ventricular ejection fraction, and bright anterolateral and/or infundibular ventricular signals corresponding with an infiltration of fatty tissue (Meurs et al, 2010). Dogs homozygous for the STRN mutation had, on average, more ventricular premature contractions (VPCs) than heterozygous dogs (Meurs et al., 2010). Although STRN is also highly expressed in neural tissue, affected dogs have no apparent neurologic deficits (Meurs et al., 2010).","defect":true,"group_name":"Cardiomyopathy, arrhythmogenic right ventricular","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Meurs et al. (2010) and Cattanach et al. (2015) reported autosomal dominance with mostly low penetrance, which means, in effect, that this disorder is multifactorial.","mondo_terms":[],"name":"Arrhythmogenic right ventricular cardiomyopathy","omia_group_id":878,"omia_phene_id":1564,"omia_record_id":"OMIA:000878-9615","publication_ids":[51011,60213,87662,107081,108317,108477,108815,109181,109182,109900,109906,109915,114663,114962,116020,116021,121792,122753,122825,123650,124498,125307,125393,125623,125888,128596,130374,130465,132024,133322],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1564","source_release":"retrieved-2026-09-12","summary":"Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease characterized by monomorphic ventricular arrhythmias, syncope, and sudden cardiac death in Boxer dogs. Because the presenting sign can be sudden death, many dogs die without a diagnosis. Pathologic changes in the heart include dilation of the right ventricle and replacement of myocardial tissue with fibrous and fatty infiltrates. The mode of inheritance appears to be autosomal dominant with incomplete penetrance. A causative mutation has been identified in STRN. \r\n\r\nEdited by Meg Sleeper, VMD and Vicki N. Meyers-llen, VMD, PhD, Dipl. ACT\r\n\r\nHoldt et al. (2022) describe occurrence of arrhythmogenic right ventricular cardiomyopathy in Bulldogs. \"Genetic testing of five cases revealed that the representative Bulldogs from this study did not have the striatin mutation that has been previously documented in Boxers.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Retinal atrophy - Rod-cone dysplasia, CRX related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013449","iri":"http://purl.obolibrary.org/obo/MONDO_0013449","label":"Leber congenital amaurosis 7"}],"name":"","omia_group_id":881,"omia_phene_id":1568,"omia_record_id":"OMIA:000881-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1568","source_release":"retrieved-2026-09-12","summary":"Redundant - Information previously listed here about the canine cone transducin-gamma gene and cone degeneration has been moved to '\r\nOMIA:002715-9615 : Cone degeneration in Canis lupus familiaris' [07/05/2023]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"}],"characterised":true,"characterised_year":1993,"clinical_features":"","defect":true,"group_name":"Retinal atrophy - Rod-cone dysplasia 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":882,"omia_phene_id":1569,"omia_record_id":"OMIA:000882-9615","publication_ids":[7230,8211,8212,32399,37943,54649,57843,57850,60793,61804,69083,69084,69085,69086,69087,71890,79868,85248,86203,107313,107344,112003,112004,115338,115539,117658,119960,122208,123542,123561,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1569","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Cardigan Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200290"}],"characterised":true,"characterised_year":1994,"clinical_features":"Affected pups are characterized by failure to thrive, absence of palpable peripheral lymph nodes, small thymic size, and T cells that are unresponsive to proliferative stimulation. Affected pups often succumb to chronic, recurrent, opportunistic infections in varied locations (ear, skin, intestine). Other signs include diarrhea, and intermittent vomiting. Vaccination of affected pups with modified live virus vaccines can induce viremia and clinical signs. Affected pups have peripheral lymphopenia with a normal percentage of B cells and a low to normal percentage of T cells.  IgM concentrations are normal, but IgG and IgA concentrations are greatly reduced or absent (Pullen et al., 1997). Even with supportive treatment, affected pups usually die by 4 months of age. ","defect":true,"group_name":"Severe combined immunodeficiency disease, X-linked","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010730","iri":"http://purl.obolibrary.org/obo/MONDO_0010730","label":"combined immunodeficiency, X-linked"}],"name":"","omia_group_id":899,"omia_phene_id":1587,"omia_record_id":"OMIA:000899-9615","publication_ids":[35581,51639,51807,52887,61270,64907,78060,78207,79660,87580,87587,91463,107885,109079,109328,110162,110229,110230,110231,113417,113418,120515],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1587","source_release":"retrieved-2026-09-12","summary":"X-linked severe combined immunodeficiency disease (XSCID) is an immune disorder of basset hounds and Cardigan Welsh corgis. Affected pups have peripheral lymphopenia, with low or absent IgG and IgA, but normal IgM concentrations. Clinical findings include the absence of palpable lymph nodes, a small thymic shadow on radiographs, and chronic recurrent infections. It is invariably lethal. The breed specific mutations in IL2RG lead to production of a truncated protein.\r\n\r\nEdited by Paula Henthorn, PhD","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sex reversal, generic (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":900,"omia_phene_id":1589,"omia_record_id":"OMIA:000900-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1589","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201287"}],"characterised":true,"characterised_year":1990,"clinical_features":"Affected Springer Spaniel dogs may be smaller than littermates, and often present with difficulty standing, ataxia, and generalised tremors that typically appear at 10-12 days of age (Griffiths et al., 1981). Death often occurs at 3-4 months of age (Griffiths et al., 1981; Nadon et al., 1990). IT thanks DVM student Judith Browne, who provided the basis of this contribution in May 2023.<br>Gutierrez-Quintana et al. (2026): \"The most severely affected [English Cocker Spaniel] male pup displayed pronounced generalized tremors, progressive motor dysfunction, and markedly impaired growth.\"","defect":true,"group_name":"Tremor, X-linked","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010714","iri":"http://purl.obolibrary.org/obo/MONDO_0010714","label":"Pelizeaus-Merzbacher spectrum disorder"}],"name":"Shaking pup","omia_group_id":770,"omia_phene_id":1595,"omia_record_id":"OMIA:000770-9615","publication_ids":[2481,20899,59847,70141,84190,107361,112877,112878,112879,112880,112881,112882,112883,128324,132405],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1595","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Short spine","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":911,"omia_phene_id":1602,"omia_record_id":"OMIA:000911-9615","publication_ids":[111694,111695],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1602","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Shoulder luxation","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":912,"omia_phene_id":1604,"omia_record_id":"OMIA:000912-9615","publication_ids":[54474],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1604","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sodium-potassium-ATPase, high activity","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":924,"omia_phene_id":1615,"omia_record_id":"OMIA:000924-9615","publication_ids":[11169,28325,88851,113606],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1615","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Spinal muscular atrophy","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":939,"omia_phene_id":1635,"omia_record_id":"OMIA:000939-9615","publication_ids":[11553,13018,14445,17176,26466,43467,44153,59186,78778,84243,85512,92202,95640,106973,114953],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1635","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Subaortic stenosis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"From available pedigree evidence in the Newfoundland breed, Pyle et al (1976) concluded that this disorder is polygenic. \r\nFrom a pedigree analysis of \"more than 230,000 Newfoundland dogs from the European and North American population reaching back to the 19th century including 6023 dogs with a SAS diagnosis\", Reist-Marti et al. (2014) concluded that \"The only simple mode of inheritance that fitted the data well was autosomal codominant with lethal homozygosity and a penetrance of 1/3 in the heterozygotes\", which, in effect, is polygenic inheritance.\r\nOhad et al. (2013) provided evidence for autosomal recessive inheritance in Dogue de Bordeaux dogs in Israel.\r\nFrom a pedigree of 45 Newfoundlands, Stern et al. (2014) concluded, in essence, polygenic inheritance.","mondo_terms":[],"name":"","omia_group_id":952,"omia_phene_id":1660,"omia_record_id":"OMIA:000952-9615","publication_ids":[2168,8233,40238,45356,54257,65843,68778,70146,83174,90414,93491,107451,109171,109902,109907,109921,110025,110240,110241,110244,112346,114156,115535,115895,115896,117851,120859,121601,124901,125225,129710],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1660","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sudden death","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":955,"omia_phene_id":1665,"omia_record_id":"OMIA:000955-9615","publication_ids":[41379,93411],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1665","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Swimming pup syndrome (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Information relating to swimming pup syndrome has been moved to OMIA 000585-9615 : Leg weakness in Canis lupus familiaris [14/10/2021]","omia_group_id":962,"omia_phene_id":1672,"omia_record_id":"OMIA:000962-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1672","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Systemic lupus erythematosus","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":968,"omia_phene_id":1682,"omia_record_id":"OMIA:000968-9615","publication_ids":[35935,37056,40667,55008,59012,65904,71511,85764,86921,88417,89344,101959,109174,109193,115947,116817,117179,122304,124289,126419,128045,132786,132854,133449],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1682","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tail chasing","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":971,"omia_phene_id":1686,"omia_record_id":"OMIA:000971-9615","publication_ids":[37719,111257,111258,111259,111260,111261,111262,111263,111264,111265,111266,111267,111841,112536,112956],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1686","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tapetal degeneration","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":980,"omia_phene_id":1699,"omia_record_id":"OMIA:000980-9615","publication_ids":[20382,109838],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1699","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Androgen insensitivity syndrome (AIS)","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0019154","iri":"http://purl.obolibrary.org/obo/MONDO_0019154","label":"androgen insensitivity syndrome"}],"name":"","omia_group_id":991,"omia_phene_id":1715,"omia_record_id":"OMIA:000991-9615","publication_ids":[42981,122026],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1715","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Keeshond (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200759"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tetralogy of Fallot","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":994,"omia_phene_id":1723,"omia_record_id":"OMIA:000994-9615","publication_ids":[63033,73537,82973,88127,98547,109407,117092,127130],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1723","source_release":"retrieved-2026-09-12","summary":"see conotruncal heart malformations in the dog","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Otterhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200980"}],"characterised":true,"characterised_year":2000,"clinical_features":"","defect":true,"group_name":"Thrombasthenia","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1000,"omia_phene_id":1728,"omia_record_id":"OMIA:001000-9615","publication_ids":[43824,70046,85251,94388,96353,98711,109389,109390,109567,110170,116407,116408,116409,116411,122436,124968,124969,125867],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1728","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"This disorder occurs in many different forms, many of which are not inherited. As summarised by Żmigrodzka et al. (2014), \"Thrombocytopenia (low platelet count) can occur as a result of a megacaryocyte disorder, disturbance of platelet production as well as their premature destruction. Platelet count can be also decreased due to sequestration of platelets in the tissues . . .  . Myeloproliferative bone marrow disorders as well as certain drugs (e.g. oestrogens and chloramphenicol) can alter platelet production in the bone marrow . . .  . The most frequent cause of thrombocytopenia is premature platelet destruction due to an abnormal immune response; when no underlying disease is found and aetiological agent remains undetermined IMT is described as primary. Secondary disease can develop in neoplastic conditions (e.g. mammary gland tumour, haemangiosarcoma, and lymphoma), infectious diseases (e.g. babesiosis, leptospirosis, and other bacterial, viral, and parasitic infections), after vaccination with live attenuated viruses (e.g. canine distemper virus), or after drug treatment (e.g. chloramphenicol, cephalosporin, sulphonamides, and gold salts). Rapid platelet consumption is often observed in acute haemorrhage, disseminated intravascular coagulation, or inflammation. Destruction and consumption of platelets are also enhanced in microangiopathies . . .   . Common causes of platelet sequestration are splenomegaly, splenic torsion, and sepsis . . .  .\"","defect":true,"group_name":"Thrombocytopenia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1001,"omia_phene_id":1729,"omia_record_id":"OMIA:001001-9615","publication_ids":[50580,57518,58466,83265,91140,99730,107334,112245,112247,115047,115700,115701,115702,115703,115704,115705,117303,124989,126659,132963],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1729","source_release":"retrieved-2026-09-12","summary":"See OMIA 002434-9615 : Thrombocytopenia, TUBB1-related in Canis lupus familiaris for this disease in Cavalier King Charles Spaniels and Norfolk and Cairn Terriers","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thrombocytopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1002,"omia_phene_id":1730,"omia_record_id":"OMIA:001002-9615","publication_ids":[83619],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1730","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thrombopathia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1003,"omia_phene_id":1731,"omia_record_id":"OMIA:001003-9615","publication_ids":[21300,43824,48072,62148,109385,109482,109569,109570,110340,113685,116410,118055,125214],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1731","source_release":"retrieved-2026-09-12","summary":"Boudreaux et al. (2007) reported likely causal variants in  Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I (CalDAG-GEFI) for Landseer, Eskimo Spitz and Basset Hound breeds. Based on NCBI information the gene name was initially listed as RASGRP1 gene in OMIA. A recent BLAST search of the published data identified that the correct gene name is RASGRP2 and information relating to the RASGRP2 variants in these breeds have been moved to: OMIA 002433-9615 : Thrombopathia, RASGRP2-related in Canis lupus familiaris  [22/01/2022]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thromboxane responsiveness of platelets","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1004,"omia_phene_id":1733,"omia_record_id":"OMIA:001004-9615","publication_ids":[23947],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1733","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thyroiditis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1005,"omia_phene_id":1735,"omia_record_id":"OMIA:001005-9615","publication_ids":[9306,70017,73108,88290,109194,127450],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1735","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Danish/swedish Farm Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0000663"},{"name":"English Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200495"},{"name":"Eurasier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200512"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Gordon Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200613"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"},{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Transitional lumbosacral vertebrae","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Berg et al. (2025) report heritability for lumbosacral transitional vertebra in 9 dog breeds ranging from 0.056 in the German Shepherd to 0.314 in the Brittany.","mondo_terms":[],"name":"","omia_group_id":1014,"omia_phene_id":1746,"omia_record_id":"OMIA:001014-9615","publication_ids":[40450,86152,112664,116370,117491,117492,117493,117494,117495,117496,117497,117498,117499,117500,121793,126636,127232,129263,129990,131168],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1746","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tremor","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1016,"omia_phene_id":1749,"omia_record_id":"OMIA:001016-9615","publication_ids":[37813,77208,128499,129560],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1749","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tremor syndrome with central axonopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1017,"omia_phene_id":1752,"omia_record_id":"OMIA:001017-9615","publication_ids":[51183],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1752","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Black Russian Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200174"},{"name":"Boerboel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200185"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"German Hunting Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200568"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Large Munsterlander (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200816"},{"name":"Lhasa Apso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200824"},{"name":"Majorca Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200845"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"},{"name":"Spanish Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201280"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2008,"clinical_features":"Individuals with a mutation at the SLC2A9 gene accumulate uric acid due to inefficient transport of uric acid in both the liver and renal proximal tubules (Bannasch et al., 2008). High levels of uric acid excretion predispose the formation of ammonium urate uroliths (Bartges and Callens, 2015). Clinical signs are secondary to urate urolith formation in the ureter, bladder, and urethra. Uroliths are more commonly reported in male dogs with the first episode of calculus formation in Dalmatians in males at about 4.5 years and in females at 5.5 years of age (Case et al. 1993). Affected \"dogs may have pollakiuria or hematuria, or they may be asymptomatic. Small uroliths may be voided in urine, or the urine may be turbid. If urethral obstruction is present, owners may notice the dog attempting to urinate and not voiding any urine or systemic signs of obstructive uropathy (i.e., anorexia, vomiting, muscle fasciculations, depression, collapse). Urate nephroliths may be asymptomatic or may be associated with silent gross hematuria. Nephroliths that obstruct both renal pelves or both ureters are associated with systemic signs of postrenal azotemia\" (Bartges et al. 1999) Systemically, hyperkalemia, metabolic acidosis, and dehydration can be observed in some animals (Bartges and Callens, 2015). IT thanks DVM student Nancy Wang, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Urolithiasis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Hyperuricosuria and hyperuricemia","omia_group_id":1033,"omia_phene_id":1768,"omia_record_id":"OMIA:001033-9615","publication_ids":[161,1511,2682,4289,7182,7273,7853,40571,42353,42418,81729,84011,84041,84111,84121,84868,85018,85074,85076,85099,85103,85105,85116,85125,85126,85135,85138,85144,85158,85160,85167,85175,85941,86831,93102,98065,106405,107080,107173,107268,107269,107403,107405,107436,109366,109367,109368,109458,109759,109833,110090,110091,110092,111350,114682,115215,115714,115715,115716,115717,115718,115719,116902,122362,122363,122364,122369,122371,122996,123321,123322,123979,124287,125202,125653,125661,127588,127589,127590,127591,127592,128126,132530],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1768","source_release":"retrieved-2026-09-12","summary":"This entry focuses on hyperuricosuria and hyperuricemia and resulting urate urolithiasis. Not all dogs with hyperuricosuria and hyperuricemia will develop urolithiasis. For cystine urolithiasis see various entries for cystinuria: <a href=\"../../../../../../OMIA000256/9615/\">OMIA:000256-9615</a> : Cystinuria, type I - A in Canis lupus familiaris (dog), <a href=\"../../../../../../OMIA001879/9615/\">OMIA:001879-9615</a>: Cystinuria, type II - A in Canis lupus familiaris (dog),<a href=\"../../../../../../OMIA001880/9615/\"> OMIA:001880-9615</a> : Cystinuria, type II - B in Canis lupus familiaris (dog), <a href=\"../../../../../../OMIA001881/9615/\">OMIA:001881-9615</a> : Cystinuria, type III in Canis lupus familiaris (dog). The reference list below includes some papers relating to other forms of urolithiasis (e.g. calcium oxalate or struvites) and it is noted that some forms of urolithiasis do not have a genetic aetiology. For example, any cause of severe hepatic dysfunction may predispose dogs to urate lithogenesis (Bartges et al., 1999).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Urolith, cystine","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Cystinuria","omia_group_id":1031,"omia_phene_id":1771,"omia_record_id":"OMIA:001031-9615","publication_ids":[49223,107404,126324],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1771","source_release":"retrieved-2026-09-12","summary":"See also <a href=\"https://www.omia.org/OMIA001033/9615/\">OMIA:001033-9615</a>: Urolithiasis in Canis lupus familiaris (dog),&nbsp;<a href=\"https://www.omia.org/OMIA000256/9615/\">OMIA:000256-9615</a> : Cystinuria, type I - A in Canis lupus familiaris (dog), <a href=\"https://www.omia.org/OMIA001879/9615/\">OMIA:001879-9615</a>: Cystinuria, type II - A in Canis lupus familiaris (dog),<a href=\"https://www.omia.org/OMIA001880/9615/\"> OMIA:001880-9615</a> : Cystinuria, type II - B in Canis lupus familiaris (dog), <a href=\"https://www.omia.org/OMIA001881/9615/\">OMIA:001881-9615</a> : Cystinuria, type III in Canis lupus familiaris (dog)","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Valvular pulmonic stenosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1038,"omia_phene_id":1779,"omia_record_id":"OMIA:001038-9615","publication_ids":[40685,70438,73537,113593,114660,116136,123052,125307,132510],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1779","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Various disorders","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1039,"omia_phene_id":1782,"omia_record_id":"OMIA:001039-9615","publication_ids":[7685,7725,7974,10626,20814,61804,70881,73589,73606,74291,74699,84245,85627,86581,87613,92097,92150,92251,92466,92582],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1782","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ventricular arrhythmias and sudden death","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1040,"omia_phene_id":1785,"omia_record_id":"OMIA:001040-9615","publication_ids":[52385,65518,66877,76628,86298,87662,93411,94289,110382,110383,110384,110669,110670,110671,110672,110673,110674,110675,110676,110677,110679,110680,110681,110682,119272,120391,125623,126550],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1785","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ventricular septal defect","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1041,"omia_phene_id":1788,"omia_record_id":"OMIA:001041-9615","publication_ids":[7845,42236,60764,62658,85377,94837,94849,106560,107267,110023,110025,110244,111960,113593,114091,116136,116138,116139,118049,120859,125092,125307,129496],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1788","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Vitiligo","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1055,"omia_phene_id":1805,"omia_record_id":"OMIA:001055-9615","publication_ids":[43501,122150,122151,122152,126755],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1805","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Von Willebrand disease, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1056,"omia_phene_id":1807,"omia_record_id":"OMIA:001056-9615","publication_ids":[8437,9997,10411,11665,13267,13940,15584,20918,22378,24242,24364,25661,25694,26590,26802,27419,28188,28399,28418,31288,34382,34404,38355,42187,44979,50685,51189,59899,60301,60611,62000,62128,62657,63229,68805,69330,69381,69386,69572,69710,70867,74403,78212,78306,83034,83619,83981,85026,85251,86026,86848,87312,87359,93547,107450,109456,111181,113689,113690,114816,114838,117787,123198,123199,123200,123201,123202,125867],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1807","source_release":"retrieved-2026-09-12","summary":"see also <a href=\"../../../../../../OMIA001057/9615/\">OMIA:001057-9615</a> : Von Willebrand disease I in Canis lupus familiaris, <a href=\"../../../../../../OMIA001339/9615/\">OMIA:01339-9615</a> : Von Willebrand disease II in Canis lupus familiaris and <a href=\"../../../../../../OMIA001058/9615/\">OMIA:001058-9615</a> : Von Willebrand disease III in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Kromfohrlander (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200786"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":1998,"clinical_features":"Type I von Willebrand disease involves a quantitative partial deficiency of von Willebrand factor, which is a protein involved in blood clotting (Boudreaux, 2012). Clinical features can be characterised as increased bleeding tendency. However, this can be variable. Excessive prolonged bleeding from minor wounds, tooth eruptions, heat or surgical incision are observed in clinically affected dogs with low vWF (Barr &amp; McMichael, 2012; Dodds, 1984). Sudden gingival bleeding, epistaxis, gastrointestinal bleeding, haematuria, subcutaneous haematomas, petechiae can also occur (Thomas, 1996). VWD poses a significant risk in surgery or trauma, where clotting function is very important (Thomas, 1996). Treatment of affected dogs is possible (Thomas, 1996). [IT thanks DVM students MacKenzie Anderson and Jesse Wong, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Von Willebrand disease I","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"Dodds (1984) and Segert et al. (2019) report the mode of inheritance as autosomal dominant with incomplete penetrance in Doberman Pinscher and Kromfohrländer. In other breeds a recessive mode of inheritance has been proposed (Segert et al. 2019).","mondo_terms":[],"name":"Disease is also called Type 1 von Willebrand Disease, vWDI, angiohaemophillia, von Willebrand disorder, von Willebrand factor deficiency","omia_group_id":1057,"omia_phene_id":1811,"omia_record_id":"OMIA:001057-9615","publication_ids":[43824,63755,79265,80692,85251,87541,90355,94237,95627,103225,106950,107794,113685,113689,113690,114639,114837,116385,116893,119279,119424,119425,121278,122524,123197,123198,123199,123200,123201,123202,123917,125653,125867,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1811","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Havanese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200662"},{"name":"Nederlandse Kooikerhondje (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200932"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"}],"characterised":true,"characterised_year":1998,"clinical_features":"","defect":true,"group_name":"Von Willebrand disease III","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"Venta et al. (2000) report that type 3 von Willebrand's disease is inherited as an autosomal recessive trait in Scottish terriers. Armas-Jimenez (2025) also reported an autosomal recessive mode of inheritance for type 3 von Willebrand's disease in Havanese dogs.","mondo_terms":[],"name":"","omia_group_id":1058,"omia_phene_id":1812,"omia_record_id":"OMIA:001058-9615","publication_ids":[43824,43980,80692,82271,82702,85251,86359,90450,107254,109666,113685,113689,113690,116385,117892,122436,123197,123201,123202,125867,128661,130148],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1812","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bedlington Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200137"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"}],"characterised":true,"characterised_year":2016,"clinical_features":"","defect":true,"group_name":"Wilson disease","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010200","iri":"http://purl.obolibrary.org/obo/MONDO_0010200","label":"Wilson disease"}],"name":"copper toxicosis; copper storage disease, copper-associated hepatitis, copper-associated chronic hepatitis (CACH)","omia_group_id":1071,"omia_phene_id":1826,"omia_record_id":"OMIA:001071-9615","publication_ids":[16498,30968,54127,54128,57357,71542,80341,81114,83033,88568,97540,102948,108338,108809,108810,112545,115446,116301,117011,117197,117198,119174,119381,119683,119729,120022,120843,121000,121367,121968,122498,122845,123273,124002,124708,124709,125685,125907,126252,127424,129662,130739,130794,132144],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1826","source_release":"retrieved-2026-09-12","summary":"Excessive copper deposition leading to copper toxicosis is a complex genetic disorder that can lead to copper-associated chronic hepatitis. In Labrador retrievers accumulation of hepatic copper levels has been partly explained by a variant in the ATP7B gene (c.4358G&gt;A) and proposed genetic modifiers of copper toxicosis in the ATP7A and RETN gene (see '<a href=\"https://omia.org/OMIA002608/9615/\">OMIA:002608-9615</a> Modifier of copper toxicosis, ATP7A-related in Canis lupus familiaris' and <a href=\"https://omia.org/OMIA002609/9615/\">OMIA:002609-9615</a> Modifier of copper toxicosis, RETN-related in Canis lupus familiaris'). For information on a different form of copper toxicosis in Bedlington Terriers due to variants in the COMMD1 gene see: '<a href=\"https://omia.org/OMIA001988/9615/\">OMIA00:1988-9615</a> : Copper toxicosis, COMMD1-related'","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Acetabular dystrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1129,"omia_phene_id":1837,"omia_record_id":"OMIA:001129-9615","publication_ids":[7639],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1837","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chondrodystrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":189,"omia_phene_id":1838,"omia_record_id":"OMIA:000189-9615","publication_ids":[70993,112997,118121],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1838","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Spondylosis deformans","inheritance":null,"inheritance_text":"This is a multifactorial disorder. Using radiographic data from 353 offspring of 24 sires in the Boxer breed, Langeland and Lingaas (1995) estimated heritability from half-sib correlation and from offspring-parent regression. For maximum degree of osteophyte development, the estimates were 0.42 and 0.62, respectively. For the number of affected discs, the estimates were 0.47 and 0.13, respectively. The same authors also observed a positive phenotypic correlation between spondylosis deformans and hip dysplasia.","mondo_terms":[],"name":"","omia_group_id":1132,"omia_phene_id":1842,"omia_record_id":"OMIA:001132-9615","publication_ids":[9432,58515,107407,119088,133300],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1842","source_release":"retrieved-2026-09-12","summary":"This is a multifactorial disorder assessed via a radiograph. It appears to be positively correlated to hip dysplasia.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Masticatory muscle myositis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Inflammatory myopathy of masticatory muscles, focal inflammatory myopathy, canine masticatory muscle myositis","omia_group_id":1134,"omia_phene_id":1844,"omia_record_id":"OMIA:001134-9615","publication_ids":[58762,126608,132382],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1844","source_release":"retrieved-2026-09-12","summary":"Canine masticatory muscle myositis (CMMM) is an immunologically mediated canine myopathy, which affects only muscles of the masticatory muscle group (Vilafranca et al. 1995; Wu et al. 2007). The pathogenesis of MMM is not fully understood.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Respiratory distress syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":101,"omia_phene_id":1845,"omia_record_id":"OMIA:000101-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1845","source_release":"retrieved-2026-09-12","summary":"Redundant - Information previously listed here has been moved to <a href=\"https://omia.org/OMIA002539/9615/\">OMIA:002539-9615</a> : Respiratory distress syndrome, ANLN-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Finnish Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200522"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"Nederlandse Kooikerhondje (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200932"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Renal dysplasia","inheritance":null,"inheritance_text":"From a segregation analysis, Bovee (2003) concluded that the inheritance of this disorder is autosomal dominant with incomplete penetrance in the Shih Tzu breed.","mondo_terms":[],"name":"","omia_group_id":1135,"omia_phene_id":1851,"omia_record_id":"OMIA:001135-9615","publication_ids":[14562,58978,70911,73237,78410,79841,84383,89555,93522,110336,110337,110338,110339,115584,115597,116979,116980,122343,127444],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1851","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"}],"characterised":true,"characterised_year":2015,"clinical_features":"","defect":true,"group_name":"Cleft lip with or without cleft palate, ADAMTS20-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"orofacial cleft; palatoschisis","omia_group_id":1140,"omia_phene_id":1892,"omia_record_id":"OMIA:001140-9615","publication_ids":[115567,115972,117705,123356,123357],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1892","source_release":"retrieved-2026-09-12","summary":"See 'OMIA:001919-9615 : Cleft palate 1, DLX6-related' for a different form of cleft palate in Nova Scotia Duck Tolling retrievers.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neuropathy, peripheral","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1150,"omia_phene_id":1919,"omia_record_id":"OMIA:001150-9615","publication_ids":[31653,122315],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1919","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pulmonary stenosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":842,"omia_phene_id":1932,"omia_record_id":"OMIA:000842-9615","publication_ids":[14203,68872,98812,103150,107222,107626,109902,109903,110025,110224,110244,117424,117851,120859,122061,124362,124901,129644,129710],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1932","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polysaccharide storage myopathy/PSSM1/Exertional rhabdomyolysis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1158,"omia_phene_id":1933,"omia_record_id":"OMIA:001158-9615","publication_ids":[58934,68073],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1933","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Myelopathy (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Information previously presented here has been moved to 'OMIA 000263-9615 : Degenerative myelopathy in Canis lupus familiaris' [23/10/2022]","omia_group_id":1162,"omia_phene_id":1939,"omia_record_id":"OMIA:001162-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1939","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Neuronal abiotrophy (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1164,"omia_phene_id":1941,"omia_record_id":"OMIA:001164-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1941","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Afghan Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200004"},{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Brussels Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200241"},{"name":"Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200255"},{"name":"Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200258"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"German Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201454"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Kerry Blue Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200764"},{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"},{"name":"Podenco (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201026"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Soft Coated Wheaten Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201260"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"},{"name":"Treeing Walker Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201374"},{"name":"Vizsla (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201389"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"},{"name":"Wheaten Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201420"}],"characterised":false,"characterised_year":null,"clinical_features":"Affected dogs (XX male, testicular XX DSD) are most appear as bilaterally cryptorchid male dogs, but have a caudally displaced and pendulous prepuce and hypoplastic penis. Mild hypospadias may also be present. These dogs are sterile (Meyers-Wallen et al., 1988). Variable degrees of masculinization are found in affected dogs with ovotestes (XX true hermaphrodite, ovotesticular DSD). Those most masculinized have an enlarged clitoris containing a bone and/or a misshapen vulva that resembles a prepuce. Clitoral enlargement may be noted within a few months of age or at puberty. Many XX true hermaphrodites in the ACS studies had an apparently normal female external phenotype (Meyers-Wallen and Patterson 1988). Affected dogs with ovotestes may exhibit estrous cycles and rarely, produce offspring. Both XX males and XX true hermaphrodites can occur within the same litter or in the same pedigree.","defect":true,"group_name":"XX difference of sexual development, generic","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"The mode of inheritance in a large American cocker spaniel/Beagle model pedigree bred since 1982 specifically to study the genetics of this disorder was initially thought to be sex-limited autosomal recessive (Meyers-Wallen and Patterson, 1988), but more recent results from the same pedigree led Meyers-Wallen et al. (2017) to conclude \"that simple Mendelian inheritance alone was insufficient to account for XX DSD expression\" in this pedigree. Both XX males and XX true hermaphrodites can occur within the same litter or pedigree. The disorder in the ACS is very similar to the form of human XX DSD where testicular DSD and ovotesticular DSD occur in siblings or within the larger family (Meyers-Wallen, 2011). The mode of inheritance is not established for the other dog breeds in which this trait has been identified. The causative mutation in all breeds is unknown. In breeds that are closely related, the disorder is likely to be caused by the same mutation, and therefore have the same mode of inheritance. In unrelated breeds this disorder may be genetically heterogeneous (Meyers-Wallen et al., 1999).","mondo_terms":[{"id":"MONDO:0017576","iri":"http://purl.obolibrary.org/obo/MONDO_0017576","label":"46,XX disorder of sex development"}],"name":"XX sex reversal, XX DSD testicular/ovotesticular","omia_group_id":901,"omia_phene_id":1946,"omia_record_id":"OMIA:000901-9615","publication_ids":[5320,10806,12086,13944,20570,21950,42812,51891,59985,62292,71587,85177,89339,89480,107047,107227,107228,110750,110751,111421,111597,111598,111599,111600,111601,111602,111603,111604,111605,111606,111607,111608,111609,112557,115986,115990,116891,117796,117797,117973,117974,119629,120525,120962,122464,123311,123548,123953,129846,131370,133118],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1946","source_release":"retrieved-2026-09-12","summary":"Canine XX sex reversal is a type of XX disorder of sexual development (XX DSD, Pasterski et al 2010) characterized by presence of testicular tissue in the gonads and varying degrees of phenotypic masculinization in dogs that have a female karyotype (78, XX). As both Sry and the Y chromosome are absent in affected dogs, it is called Sry-negative XX sex reversal. Diagnosis is dependent upon karyotype (78,XX), PCR assay confirming that Sry is absent, and histology confirming the presence of testicular tissue in the gonads. This XX DSD has been identified in at least 28 pure bred dogs. It has been most extensively studied in the American cocker spaniel (ACS), in which the mode of inheritance is sex-limited autosomal recessive. Studies in the ACS indicate that approximately 10% of affected dogs develop bilateral testes (XX male, testicular XX DSD) and 90% develop ovotestes ( XX true hermaphrodite, ovotesticular XX DSD). Affected dogs with bilateral testes are sterile, as are most with ovotestes. However, affected dogs in the latter category have rarely reproduced as females. Carrier dogs are fertile. To prevent production of affected dogs, breeding of affected or known carrier dogs should be avoided. SRY-negative XX sex reversal has now been reported in at least 28 breeds and mixed breeds, although not all were tested for SRY, as the PCR assay for canine SRY was not available prior to 1995 ([Meyers-Wallen et al., 1995a) . While this disorder may be genetically heterogeneous in the dog population in general, the mutation is likely to be identical by descent in closely related breeds, such as English and American cocker spaniels. Normal mammalian prenatal sexual development depends upon the serial completion of three steps. The first is normal segregation of the sex chromosomes into the gametes, so that at fertilization, the zygote contains two sex chromosomes, either XX or XY. The second step is to translate chromosomal sex into gonadal sex, with XX individuals developing an ovary and XY individuals developing a testis. In mammals, gonadal sex is determined by genes on the autosomes and sex chromosomes. The third step is differentiation of the internal and external genitalia, which depends upon testicular hormones and their receptors and signaling pathways in target organs. Masculinization of the genitalia occurs in response to testis hormones, whereas female genitalia develop in their absence. Gonadal development begins with the emergence of the bipotential gonad. Shortly thereafter in XY embryos, a gene on the Y chromosome, SRY (sex determining region Y), dramatically upregulates an autosomal gene, SOX9 (SRY related HMG-box protein 9) during the critical period for Sertoli cell differentiation, which initiates testis development. Several other genes play a role in upregulating and maintaining SOX9 expression in the testis. In the ovarian pathway, R-spondin1 (RSPO1), a gene in the wingless-related protein family (WNT) signaling pathway, has a role in suppressing SOX9-mediated testis pathways in the developing ovary (reviewed in Jakob and Lovell-Badge, 2011). Both WNT4 and RSPO1 signaling lead to an increase in stabilized beta catenin. Recent evidence indicates that SOX9 and beta catenin act antagonistically (reviewed in Jakob and Lovell-Badge, 2011). Changes in gene expression in either the testis or ovarian pathway can disrupt gonadal development, leading to development of testes or ovotestes in XX individuals. Molecular mechanisms reported for development of testes or ovotestes in XX individuals of other species include: 1) SOX9 upregulation during gonadal development induces testis development, either by duplication of SOX9 in XX humans (Huang et al 1999, Cox et al 2011, Vetro et al 2011) or by transgenic manipulation in XX mice (Bishop et al. 2000). 2) Mutations that eliminate or reduce RSPO1 expression. A null RSPO1 mutation induced testis development in related XX individuals (Parma et al. 2006), while a different RSPO1 mutation induced ovotestis development in another family (Tomaselli et al. 2008). Transgenic RSPO1 null mice develop ovotestes, not testes (Chassot et al. 2008). 3) SOX3 upregulation during gonadal development induces testis development, either by genomic rearrangement of its regulatory regions in XX humans, or transgenically in XX mice (Sutton et al. 2011). 4) Mutations that eliminate FOXL2 or PISRT1 expression induce testis development in XX polled goats (Pailhoux et al. 2001, Pannetier et al. 2005). This mechanism has not been identified as a cause of XX sex reversal in other species, and human FOXL2 mutations are associated with premature ovarian failure (De Baere et al. 2003). The ACS model is strikingly similar to the subcategory of human XX DSD in which testes or ovotestes develop in 46,XX siblings, or within the same family, and the genetic defect is unknown [Skordis et al., 1987; Ostrer et al., 1989; Palmer et al., 1989; Kuhnle et al., 1993; Ramos et al., 1996; Slaney et al., 1998]. No candidate genes have yet been linked to the affected phenotype in dogs from the ACS research model (Kothapalli et al., 2003; Kothapalli et al., 2004; Kothapalli et al., 2005; Kothapalli et al., 2006; Pujar et al., 2005). ]. Exon scanning ruled out mutations in the coding region of canine RSPO1 in affected dogs of most breeds in which XX DSD has been reported [DeLorenzi et al., 2008]. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT in 2001; updated by FN in 2015.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Fragmented coronoid process","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1167,"omia_phene_id":1947,"omia_record_id":"OMIA:001167-9615","publication_ids":[60224,63449,80815,87418,101981,102023,109843,109845,109847,109848,109849,109850,109853,109854,109855,109856,109857,109859,109861,109862,109864,109865,115436],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1947","source_release":"retrieved-2026-09-12","summary":"see also 'OMIA 001863-9615 : Medial coronoid disease in Canis lupus familiaris'","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":693,"omia_phene_id":1948,"omia_record_id":"OMIA:000693-9615","publication_ids":[7228,64989,111517,111520,125472,129971,130005],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1948","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ascites","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1169,"omia_phene_id":1953,"omia_record_id":"OMIA:001169-9615","publication_ids":[19284,42159,77243,82073],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1953","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Osteodystrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":753,"omia_phene_id":1955,"omia_record_id":"OMIA:000753-9615","publication_ids":[8135,86953,100692,102023,107896,115096,117032,122423,124171],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1955","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Reduced glutathione deficiency, unclassified","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1235,"omia_phene_id":1959,"omia_record_id":"OMIA:001235-9615","publication_ids":[29340],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1959","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hyperlipidaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1160,"omia_phene_id":1961,"omia_record_id":"OMIA:001160-9615","publication_ids":[11630,43267,59384,109446,115275,115516,129144],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1961","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Genu valgum","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1172,"omia_phene_id":1964,"omia_record_id":"OMIA:001172-9615","publication_ids":[59301],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1964","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polyuria","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1177,"omia_phene_id":1976,"omia_record_id":"OMIA:001177-9615","publication_ids":[59805],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1976","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"Slappendel et al. (1991): \"The main clinical problems were diarrhoea, icterus, and ataxia and paresis of the pelvic limbs. Laboratory evaluation revealed abnormal red cell shape (stomatocytosis), increased osmotic fragility, haemolytic anaemia, and increased liver enzymes and serum bilirubin. Gastroscopic and histopathologic examination of the gastric mucosa revealed hypertrophic gastritis resembling Ménétrier's disease in man. ... Electroneurography in 2 dogs revealed polyneuropathy.\"","defect":true,"group_name":"Stomatocytosis and gastritis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Familial stomatocytosis hypertrophic gastritis","omia_group_id":1178,"omia_phene_id":1977,"omia_record_id":"OMIA:001178-9615","publication_ids":[26874,129499],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1977","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polyglandular autoimmune syndrome, type II","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1179,"omia_phene_id":1978,"omia_record_id":"OMIA:001179-9615","publication_ids":[60295,116846],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1978","source_release":"retrieved-2026-09-12","summary":"see also 'OMIA 001808-9615 : Multiple autoimmune diseases syndrome in Canis lupus familiaris'","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Atrial fibrillation","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1181,"omia_phene_id":1989,"omia_record_id":"OMIA:001181-9615","publication_ids":[60172,82710,117308,118820,120394,121001,122655,124808,125015,126836,130634],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1989","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal and skeletal dysplasia","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Rodarte-Almeida et al. (2016) suggested autosomal dominant inheritance in a colony of American pit bull terriers.","mondo_terms":[],"name":"","omia_group_id":1182,"omia_phene_id":1992,"omia_record_id":"OMIA:001182-9615","publication_ids":[30151,60186,117233],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1992","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Bullous pemphigoid","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1183,"omia_phene_id":1993,"omia_record_id":"OMIA:001183-9615","publication_ids":[60410,89238,124289],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1993","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Amyloidosis, AA","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":38,"omia_phene_id":1994,"omia_record_id":"OMIA:000038-9615","publication_ids":[60523,63982,66206,112198,115074,122385,129750],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1994","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Alloimmune haemolytic anaemia of the newborn","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":28,"omia_phene_id":1996,"omia_record_id":"OMIA:000028-9615","publication_ids":[58557,60430],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1996","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinoschisis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1185,"omia_phene_id":1999,"omia_record_id":"OMIA:001185-9615","publication_ids":[60646,126254,126255],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1999","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hemivertebrae","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"As reported by Schlensker and Distl (2015), \"Heritability estimates for the number and grade of hemivertebrae were 0.58 and 0.53, respectively. The number of coccygeal vertebrae showed a heritability estimate of 0.35. In addition, the number of coccygeal vertebrae was negatively correlated with the number and grade of hemivertebrae. The prevalence of hemivertebrae could increase if dogs with shorter tails are preferentially selected for breeding purposes.\"","mondo_terms":[],"name":"","omia_group_id":1191,"omia_phene_id":2015,"omia_record_id":"OMIA:001191-9615","publication_ids":[9730,107714,107715,114669,116163,116164,116165,116166,116167,116168,122069,127072,127232,127715,128475,129157,133323],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2015","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ectromelia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1126,"omia_phene_id":2027,"omia_record_id":"OMIA:001126-9615","publication_ids":[111878],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2027","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Nodular dermatofibrosis and kidney disease (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1195,"omia_phene_id":2034,"omia_record_id":"OMIA:001195-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2034","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypergammaglobulinaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1196,"omia_phene_id":2035,"omia_record_id":"OMIA:001196-9615","publication_ids":[61727,82155],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2035","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Horner syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1197,"omia_phene_id":2037,"omia_record_id":"OMIA:001197-9615","publication_ids":[61975,63207,71506,83162,88638,95623,99374,125249],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2037","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ataxia, progressive","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1091,"omia_phene_id":2044,"omia_record_id":"OMIA:001091-9615","publication_ids":[62302],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2044","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200034"},{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Chow Chow (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200361"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"}],"characterised":true,"characterised_year":1999,"clinical_features":"Signs in miniature schnauzers include a stiff gait most pronounced at the onset of movement and during rapid changes in posture (turning quickly, falling), which may diminish with exercise. Other signs include severe skeletal muscle hypertrophy, difficulty rising, increased respiratory sounds, difficulty swallowing, and ptyalism beginning around 2 to 3 months of age. Associated superior prognathism may be a closely segregating trait (Gracis et al., 2000). Signs in the Australian cattle dog are similar, including skeletal muscle hypertrophy and generalized stiffness (Finnigan et al., 2007).<br>Two French bulldogs reported by Shelton et al. (2024) presented with muscle hypertrophy, swallowing disorders, and gait abnormalities.","defect":true,"group_name":"Myotonia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Although heterozygotes have heterodimeric chloride channels in their skeletal muscle, they appear clinically normal (Rhodes et al., 1999). Rodrigues et al. (2020) \"The family history and pedigree analysis suggested an autosomal recessive inheritance pattern [in American Bulldogs]....\"","mondo_terms":[{"id":"MONDO:0009710","iri":"http://purl.obolibrary.org/obo/MONDO_0009710","label":"Thomsen and Becker disease"}],"name":"","omia_group_id":698,"omia_phene_id":2053,"omia_record_id":"OMIA:000698-9615","publication_ids":[3859,7244,63157,80668,84274,86712,88228,102320,103396,108756,109404,110539,112829,112830,112831,112832,114989,116893,118751,122597,122598,122599,122600,122601,122714,125001,125824,127249,127575,128868],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2053","source_release":"retrieved-2026-09-12","summary":"Myotonia is a chloride channel disorder characterized by delayed skeletal muscle relaxation after contraction. Predominant signs include a stiff gait and skeletal muscle hypertrophy. Genetic tests are available for the miniature schnauzer and Australian cattle dog. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Myelin defect (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1204,"omia_phene_id":2054,"omia_record_id":"OMIA:001204-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2054","source_release":"retrieved-2026-09-12","summary":"Information previously listed here has been moved to 'OMIA 002214-9615 : Leukodystrophy, cavitating in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Poodle, Toy (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201061"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":true,"characterised_year":2013,"clinical_features":"","defect":true,"group_name":"Spinal dysraphism","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"In Weimaraner dogs the condition has an autosomal recessive mode of inheritance. Sporadic forms that may not be heritable have been reported in many other breeds.","mondo_terms":[],"name":"","omia_group_id":938,"omia_phene_id":2055,"omia_record_id":"OMIA:000938-9615","publication_ids":[6503,7075,26368,108957,114667,114668,114669,114670,114671,114672,114673,114674,114675,114676,116278,125200,127714,127715,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2055","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200765"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Budd-chiari syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1203,"omia_phene_id":2059,"omia_record_id":"OMIA:001203-9615","publication_ids":[19284,80938,94615,96118,106456,108796,112521,112934,116753],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2059","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Pyrenean Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201113"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Laryngeal paralysis, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1206,"omia_phene_id":2063,"omia_record_id":"OMIA:001206-9615","publication_ids":[46741,56163,63836,83255,97398,109110,109480,115458,117070,121068,123888,123889,123890,126999],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2063","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Central Asian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200321"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2003,"clinical_features":"","defect":true,"group_name":"Epidermolysis bullosa, dystrophic","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Recessive dystrophic epidermolysis bullosa (RDEB)","omia_group_id":341,"omia_phene_id":2071,"omia_record_id":"OMIA:000341-9615","publication_ids":[64100,91550,107457,110279,110280,117612,121082,122573,123125],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2071","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tachycardia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":969,"omia_phene_id":2072,"omia_record_id":"OMIA:000969-9615","publication_ids":[64252,65518,66877,72556],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2072","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neuropathy, giant axonal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1207,"omia_phene_id":2073,"omia_record_id":"OMIA:001207-9615","publication_ids":[64262],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2073","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Toy (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201061"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"}],"characterised":true,"characterised_year":2016,"clinical_features":"Alexander disease is a progressive fatal neurodegenerative disease. The observed cases have been found in younger dogs, usually &lt;12 months of age (Wrzosek et al., 2015). Early signs may begin as incoordination, a head tilt, knuckling on limbs, issues with balance, nystagmus and an aversion to touch (Wrzosek et al., 2015). As the disease progresses clinical features are ataxia and paresis in the hindlimbs (Kobatake et al., 2020) and in later stages tetraparesis (Van Poucke et al., 2016). Some patients may experience spastic front limbs along with vestibular signs (e.g., head tilt, strabismus) and myoclonic jerks of the head and cervical regions (Van Poucke et al., 2016). Generalised muscle atrophy, stiffness, regurgitation, increasing difficulty in swallowing and changes in vocalisation can be observed (Van Poucke et al., 2016; Kobatake et al., 2020). [IT thanks DVM students Bri Pepper and Carmen Tu for contributions to this entry in April 2022]","defect":true,"group_name":"Alexander disease","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008752","iri":"http://purl.obolibrary.org/obo/MONDO_0008752","label":"Alexander disease"}],"name":"Fibrinoid leukodystrophy, fibrinoid encephalomyelopathy","omia_group_id":1208,"omia_phene_id":2074,"omia_record_id":"OMIA:001208-9615","publication_ids":[64718,110053,110054,110055,117604,121870,123390,123391,123392,123393,124170,128324,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2074","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Spina bifida","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":933,"omia_phene_id":2078,"omia_record_id":"OMIA:000933-9615","publication_ids":[8210,114669,116278,121225,125200,126316,127232,129493,132346],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2078","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Coloboma","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":219,"omia_phene_id":2081,"omia_record_id":"OMIA:000219-9615","publication_ids":[6726,7015,122708,125219],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2081","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypertrichosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":513,"omia_phene_id":2095,"omia_record_id":"OMIA:000513-9615","publication_ids":[66338],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2095","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"}],"characterised":true,"characterised_year":2018,"clinical_features":"Osteochondromatosis is a skeletal developmental disorder that results in exostoses (cartilage capped bone outgrowths) that develop during the growth period (Pacifici, 2017). Depending on the location and size of the exostoses, osteochondromatosis can clinically present asymptotically, or can cause pain, lameness, paresis and paralysis (Czerwik et al. 2019). Clinical signs often occur due to compression of nearby tissues, including nerve root compression (causing pain) or spinal cord compression (causing paralysis) (Friedenberg et al., 2018). [IT thanks DVM student Lilli Wilhelm, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Osteochondromatosis, EXT2-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"also called: multiple osteochondromas, multiple hereditary exostoses, multiple cartilaginous exostoses, diaphyseal aclasis and hereditary deforming chondrodysplasia","omia_group_id":1214,"omia_phene_id":2103,"omia_record_id":"OMIA:001214-9615","publication_ids":[6186,40370,64237,65655,115096,117957,117958,117959,120920,120921,120922,120923,120924,120925,123335,123336,123337],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2103","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dermatosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1219,"omia_phene_id":2106,"omia_record_id":"OMIA:001219-9615","publication_ids":[73232,76696,86019,88331,119935],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2106","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Vasculopathy, cutaneous and renal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1220,"omia_phene_id":2107,"omia_record_id":"OMIA:001220-9615","publication_ids":[65165,74474,74502,74573,80542,110636,110637,123734],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2107","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cerebellar cortical atrophy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Olby et a. (2004) provided reasonable evidence supporting autosomal recessive inheritance in a family of American Staffordshire Terriers. A likely disease causing mutation has been identified in this breed - see 'lysosomal storage disease, ARSG related' (OMIA001503-9615) for further details.","mondo_terms":[],"name":"","omia_group_id":177,"omia_phene_id":2109,"omia_record_id":"OMIA:000177-9615","publication_ids":[21759,93212,106513,107467,108320,121013,125285],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2109","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Briard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200234"}],"characterised":true,"characterised_year":1998,"clinical_features":"Kondo et al. (2015) reported that the diagnosis of this disorder as congenital stationary night blindness by Narfström et al. (1989) was actually incorrect, and that the disorder described in this OMIA entry is not actually congenital stationary night blindness. Kondo et al. (2015) do not provide any suggestions as to the correct diagnosis.","defect":true,"group_name":"Leber congenital amaurosis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Retinal dystrophy; congenital stationary night blindness (CSNB)","omia_group_id":1222,"omia_phene_id":2111,"omia_record_id":"OMIA:001222-9615","publication_ids":[18894,65680,73192,73365,75942,79078,82101,86541,96016,96253,103240,103363,103513,106333,107905,107906,107907,107908,107909,108313,108333,108806,109158,109159,109160,109161,109351,109369,109381,110402,112004,112120,113539,114372,114608,115721,116238,117834,120070,120515,123310,123876,123911,124796,125219,128526,129012,129328,129668,129719,129760,130075],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2111","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Goniodysgenesis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Pugh et al. (2019): \"Analysis of pedigree information was consistent with an autosomal recessive mode of inheritance for severe goniodysgenesis (potentially leading to glaucoma) in this breed.\"","mondo_terms":[],"name":"","omia_group_id":1223,"omia_phene_id":2115,"omia_record_id":"OMIA:001223-9615","publication_ids":[65198,68082,114740,114927,116307,118395,118396,118397,118398,119296,125219],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2115","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists (2021): \"congenital anomaly characterized by the persistence of a variably fenestrated sheet of uveal tissue spanning the iridocorneal angle, extending from the iris base to the peripheral cornea. Diagnosis is by gonioscopy, which is not part of a routine eye certification examination.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polymelia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1226,"omia_phene_id":2125,"omia_record_id":"OMIA:001226-9615","publication_ids":[19940],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2125","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemophagocytic syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1229,"omia_phene_id":2130,"omia_record_id":"OMIA:001229-9615","publication_ids":[64391],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2130","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"}],"characterised":true,"characterised_year":2026,"clinical_features":"Fulton et al. (2026): \"A 7-month-old intact male Cavalier King Charles Spaniel was presented for persistent glucosuria despite normoglycemia, failure to thrive, chronic diarrhea, and cerebellar ataxia.\"","defect":true,"group_name":"Menkes disease","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010651","iri":"http://purl.obolibrary.org/obo/MONDO_0010651","label":"Menkes disease"}],"name":"","omia_group_id":640,"omia_phene_id":2147,"omia_record_id":"OMIA:000640-9615","publication_ids":[133520],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2147","source_release":"retrieved-2026-09-12","summary":"See also '<a href=\"../../../../../../OMIA002608/9615/\">OMIA:002608-9615</a> Modifier of copper toxicosis, ATP7A-related' in Canis lupus familiaris' for ATP7A variants protective of copper accumulation.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2000,"clinical_features":"","defect":false,"group_name":"Coat colour, extension","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"As summarised by Dürig et al. (2018): \"In dogs, three variant <em>MC1R</em> alleles in addition to the wildtype E<sup>+</sup> allele have been characterized on the molecular level: E<sup>M</sup> &gt; E<sup>G</sup> &gt; E<sup>+</sup> &gt; e. The most dominant allele, E<sup>M</sup>, caused by the amino acid exchange p.Val264Met, is found in dogs with a black mask such as Leonbergers or Malinois [OMIA 001590-9615] . . . . The E<sup>G</sup> allele, caused by p.Gly78Val, is found in ‘grizzle’ Salukis or ‘domino’ Afghan Hounds [OMIA 001495-9615] . . . . Finally, the recessive loss‐of‐function allele e, caused by the p.Arg306Ter variant, is found in yellow‐ or red‐coloured dogs such as yellow Labrador Retrievers, red Irish Setters, and many others.\" From the analysis of survey data, but not of inheritance, Anderson et al. (2020) concluded \"Phenotype analysis of owner-provided dog pictures reveals that the e<sup>A</sup> allele has an impact on coat color and is recessive to wild type E and dominant to the e alleles. In dominant black (KB/*) dogs it can prevent the phenotypic expression of the K locus, and the expressed coat color is solely determined by the A locus. In the absence of dominant black, eA/eA and eA/e genotypes result in the coat color patterns referred to in their respective breed communities as domino in Alaskan Malamute and other Spitz breeds, grizzle in Chihuahua, and pied in Beagle\".<br>Honkaned et al. (2024) identified a new <em>MC1R </em>variant in sable English Cocker Spaniel dogs and propse naming it \"allele e<sup>H</sup> and further show that the e<sup>A</sup> , e<sup>H</sup> and e<sup>G</sup> (previously known as E<sup>G</sup> ) alleles associate with similar phenotypes in dogs impacting genotypes regulated by beta-defensin 103 gene (CBD103; K locus) and agouti signaling protein gene (ASIP; A locus) in the absence of the E<sup>M</sup> and E alleles. This suggests that all three alleles are putative reduced-function variants of the <em>MC1R</em> gene. We propose the revised and updated E locus dominance hierarchy to be E<sup>M</sup> &gt; E &gt; e<sup>A</sup> /e<sup>H</sup> /e<sup>G</sup> &gt; e<sup>1-3</sup> .\"","mondo_terms":[],"name":"This is the classic E (Extension) locus described by Little (1957).","omia_group_id":1199,"omia_phene_id":2159,"omia_record_id":"OMIA:001199-9615","publication_ids":[17637,89029,92810,96951,101752,107410,108854,109583,109584,109585,110284,112361,112418,113927,114157,115195,118064,119928,120277,120501,121090,121097,122792,123315,123917,124017,127252,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2159","source_release":"retrieved-2026-09-12","summary":"For additional phenes due to MCR1 variants in dogs see:<br><a href=\"../../../../../../OMIA001495/9615/\">OMIA 001495-9615</a> : Coat colour, grizzle in Canis lupus familiaris&nbsp;<br><a href=\"../../../../../../OMIA001590/9615/\">OMIA 001590-9615</a> : Coat colour, melanistic mask in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Urolith, urate","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1032,"omia_phene_id":2163,"omia_record_id":"OMIA:001032-9615","publication_ids":[49223,114378],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2163","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pemphigus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1188,"omia_phene_id":2166,"omia_record_id":"OMIA:001188-9615","publication_ids":[67097,69613,71387,80427,82069,85412,89176,89183,92064,99453,121077,122304,122637,123997,124289,125477,127035,127737,128914],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2166","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Coeliac sprue","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1238,"omia_phene_id":2175,"omia_record_id":"OMIA:001238-9615","publication_ids":[9500],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2175","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Syndactyly","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":963,"omia_phene_id":2180,"omia_record_id":"OMIA:000963-9615","publication_ids":[21491,111253,115361,115362,115363],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2180","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hyperphosphatasaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1240,"omia_phene_id":2181,"omia_record_id":"OMIA:001240-9615","publication_ids":[67212],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2181","source_release":"retrieved-2026-09-12","summary":"Lawler et al. (1996) reported the familial occurrence of elevated serum alkaline phosphatase (SAP) in Siberian Huskies.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Maltese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200856"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Poodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201048"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2011,"clinical_features":"","defect":true,"group_name":"Polycythemia","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":809,"omia_phene_id":2182,"omia_record_id":"OMIA:000809-9615","publication_ids":[7636,78252,80597,110239,125147,129294],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2182","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Oligodontia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1241,"omia_phene_id":2183,"omia_record_id":"OMIA:001241-9615","publication_ids":[111907,111908],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2183","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lysosomal storage disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":616,"omia_phene_id":2188,"omia_record_id":"OMIA:000616-9615","publication_ids":[132],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2188","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypothyroidism, primary","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":538,"omia_phene_id":2191,"omia_record_id":"OMIA:000538-9615","publication_ids":[59227,67303,76389,79071,89093,110161,114091,126847,129880,130812,132071,132583,133389],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2191","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lipomatosis, multiple","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":606,"omia_phene_id":2201,"omia_record_id":"OMIA:000606-9615","publication_ids":[111946,111947,111948],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2201","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Atopy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":82,"omia_phene_id":2203,"omia_record_id":"OMIA:000082-9615","publication_ids":[8302,69991,71259,72875,73196,74069,74316,75033,75035,79051,79570,82833,84077,84681,88387,89399,89529,89567,90603,91236,91254,93749,93762,97262,100625,101129,102680,103293,103306,103649,103808,105672,110522,114091,114245,116324,130890],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2203","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chronic valvular disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1246,"omia_phene_id":2210,"omia_record_id":"OMIA:001246-9615","publication_ids":[67988,86118,93183,125951,131153],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2210","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ectrodactyly","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":324,"omia_phene_id":2223,"omia_record_id":"OMIA:000324-9615","publication_ids":[68696,111238,111239,111240,115543],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2223","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hernia, scrotal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":464,"omia_phene_id":2239,"omia_record_id":"OMIA:000464-9615","publication_ids":[69277],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2239","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Encephalomyelopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":335,"omia_phene_id":2242,"omia_record_id":"OMIA:000335-9615","publication_ids":[69255],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2242","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Brussels Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200241"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Syringomyelia","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":965,"omia_phene_id":2243,"omia_record_id":"OMIA:000965-9615","publication_ids":[6503,69375,90174,92663,93468,108518,108519,108520,108523,108524,108525,108526,108527,108528,108530,108531,108532,108533,108788,108950,108951,108952,108953,108954,108955,111571,111572,114362,114405,115582,115796,116330,116753,117485,117850,118899,118935,120798,121353,123167,123869,125580,126378,126593,126901,126924,127023,127186,127528,127892,129104,129229,129867,130394,130701,131061,132635,132969],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2243","source_release":"retrieved-2026-09-12","summary":"See also <a href=\"http://https//omia.org/OMIA001861/9615/\">OMIA:001861-9615</a> : Chiari malformation Type I with syringomyelia in Canis lupus familiaris.<br>&nbsp;","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Renal hypoplasia, bilateral","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":858,"omia_phene_id":2273,"omia_record_id":"OMIA:000858-9615","publication_ids":[9067,129529],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2273","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Spina bifida occulta","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":934,"omia_phene_id":2296,"omia_record_id":"OMIA:000934-9615","publication_ids":[121225],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2296","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Gluten-sensitive enteropathy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1261,"omia_phene_id":2318,"omia_record_id":"OMIA:001261-9615","publication_ids":[71512,73321,75689,84039,84088,84707,91426,117249,120410],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2318","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"}],"characterised":true,"characterised_year":2009,"clinical_features":"","defect":true,"group_name":"Retinal atrophy - Rod-cone dysplasia 2, RD3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1260,"omia_phene_id":2331,"omia_record_id":"OMIA:001260-9615","publication_ids":[1476,72523,76180,76477,79868,86968,87652,100760,108761,108762,110564,112004,112006,125219,125251,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2331","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hydromelia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1264,"omia_phene_id":2334,"omia_record_id":"OMIA:001264-9615","publication_ids":[72590],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2334","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201185"},{"name":"Xoloitzcuintli (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201436"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Comedo syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Schnauzer comedo syndrome","omia_group_id":1272,"omia_phene_id":2352,"omia_record_id":"OMIA:001272-9615","publication_ids":[64609,70221,73632],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2352","source_release":"retrieved-2026-09-12","summary":"Numerous comedones form in the dorsal skin. Schnauzers are particularly predisposed to this disorder.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Intussusception, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1227,"omia_phene_id":2367,"omia_record_id":"OMIA:001227-9615","publication_ids":[73853,77111,83147,84107,84146,92335,95694,99888,107552,107554,110955,110959,110960,110965,110970,110971,110972,110974,112096,113531,114392],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2367","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hydrocephalus, internal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":489,"omia_phene_id":2369,"omia_record_id":"OMIA:000489-9615","publication_ids":[58505,113912,117113,130669],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2369","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Brachygnathia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":147,"omia_phene_id":2371,"omia_record_id":"OMIA:000147-9615","publication_ids":[29807,123019],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2371","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Heterochromia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":467,"omia_phene_id":2382,"omia_record_id":"OMIA:000467-9615","publication_ids":[7518],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2382","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Wilms tumour","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1142,"omia_phene_id":2388,"omia_record_id":"OMIA:001142-9615","publication_ids":[66514,74065],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2388","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Otitis media, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1266,"omia_phene_id":2394,"omia_record_id":"OMIA:001266-9615","publication_ids":[75224,80983,81737,90854,92489,92534,94694,99097,101583,106177,113447,114162,117330,124361,126525,126829,133323],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2394","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polioencephalomyelopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1280,"omia_phene_id":2395,"omia_record_id":"OMIA:001280-9615","publication_ids":[75278,88534,108793],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2395","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neuronopathy, progressive","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1282,"omia_phene_id":2404,"omia_record_id":"OMIA:001282-9615","publication_ids":[76368],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2404","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Spongiform encephalopathy, susceptibility/resistance to","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0006825","iri":"http://purl.obolibrary.org/obo/MONDO_0006825","label":"kuru"}],"name":"","omia_group_id":944,"omia_phene_id":2405,"omia_record_id":"OMIA:000944-9615","publication_ids":[100977,106530,114278,118876,119952,120773,120778,121433,122504,123587,126033,127269,130341,132737],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2405","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Immunoglobulin G deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":554,"omia_phene_id":2410,"omia_record_id":"OMIA:000554-9615","publication_ids":[75754],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2410","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Xanthinuria, generic","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1283,"omia_phene_id":2411,"omia_record_id":"OMIA:001283-9615","publication_ids":[75793,77270,78803,83995,114682,120988,122518,122519],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2411","source_release":"retrieved-2026-09-12","summary":"See also Xanthinuria type I and type II specific entries.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Mitochondrial myopathy (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1285,"omia_phene_id":2417,"omia_record_id":"OMIA:001285-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2417","source_release":"retrieved-2026-09-12","summary":"Information previously listed here has been moved to 'OMIA 000695-9615 : Myopathy, mitochondrial in Canis lupus familiaris' [14/10/2022]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Motor neuron disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1165,"omia_phene_id":2418,"omia_record_id":"OMIA:001165-9615","publication_ids":[74839,87376,103316,103378],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2418","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Keratitis","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Cheng et al. (2016): \"evidence strongly suggests that CSK [in Greyhounds] is inherited as a simple Mendelian trait with dominant inheritance and should be amenable to gene mapping\".","mondo_terms":[],"name":"Chronic superficial keratitis","omia_group_id":1287,"omia_phene_id":2426,"omia_record_id":"OMIA:001287-9615","publication_ids":[68217,115025,116693,116694,116969,121239,121240,121241,121242,121243,123613,125219,126600,126602,128088],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2426","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Scoliosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":891,"omia_phene_id":2436,"omia_record_id":"OMIA:000891-9615","publication_ids":[76858],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2436","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tail abnormalities","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":970,"omia_phene_id":2437,"omia_record_id":"OMIA:000970-9615","publication_ids":[76978],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2437","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Exophthalmos with strabismus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":353,"omia_phene_id":2438,"omia_record_id":"OMIA:000353-9615","publication_ids":[77303],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2438","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Arthritis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":64,"omia_phene_id":2439,"omia_record_id":"OMIA:000064-9615","publication_ids":[77235,77266,77326,77333],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2439","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypoparathyroidism","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":528,"omia_phene_id":2441,"omia_record_id":"OMIA:000528-9615","publication_ids":[77318,103213,106977,117084],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2441","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Pyrenean Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201113"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polyneuropathy, generic","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1292,"omia_phene_id":2451,"omia_record_id":"OMIA:001292-9615","publication_ids":[9116,16126,46741,66426,76466,83255,104113,109105,109110,109480,112172,118916,127049],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2451","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Renal disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":856,"omia_phene_id":2461,"omia_record_id":"OMIA:000856-9615","publication_ids":[16354,64223,70783],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2461","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypercholesterolaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":499,"omia_phene_id":2473,"omia_record_id":"OMIA:000499-9615","publication_ids":[69770,74435,78699,94931,107415,115852],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2473","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"},{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200893"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2005,"clinical_features":"Affected animals are born with symmetrical hairlessness on the forehead and over the dorsal pelvic area. There is often a history of ophthalmia neonatorum (infection behind closed eye lids in neonates). Affected animals have absent or abnormal secondary hairs (Casal et al., 2005, Mauldin et al., 2009). A large number of teeth are missing. Premolars are rarely present and canines, when present, are thinner than normal and pointed outward. Teeth that are present are conically shaped. Most notably molars and incisors, when present, are misshapen and small (Lewis et al., 2010). Signs also include absent sweat glands, decreased tear production, decreased mucociliary clearance in the respiratory tract and symmetrical hypotrichosis. Affected dogs are more susceptible to pulmonary infectious disease than normal dogs. Chronic nasal and ocular discharge are common, as are corneal ulcerations (Casal et al., 2005, Casal et al., 2007, Mauldin et al., 2009).","defect":true,"group_name":"Hypohidrotic ectodermal dysplasia, X-linked, EDA-related","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"Casal et al. (1997) showed that this disorder is X-linked recessive. Mosaic expression in females heterozygous for the causative mutation is possible (Casal et al., 2005). Moura et al. (2020) reported an interesting case of an affected male and its mother, both of whom were dead by the time the researchers gained access to the data, which precluded any DNA testing. From pedigree information alone, Moura et al. (2020) reported that \"Through Bayesian inference, it was possible to establish that this case originated from a new mutation, with a 99.99% probability of the mother of the proband not being a carrier.\"","mondo_terms":[{"id":"MONDO:0010585","iri":"http://purl.obolibrary.org/obo/MONDO_0010585","label":"X-linked hypohidrotic ectodermal dysplasia"}],"name":"Ectodermal dysplasia, X-linked; X-linked hypohidrotic ectodermal dysplasia (XLHED); congenital hypotrichosis; anhidrotic ectodermal dysplasia","omia_group_id":543,"omia_phene_id":2477,"omia_record_id":"OMIA:000543-9615","publication_ids":[78938,80023,80024,80025,80026,80027,107246,107438,107685,108298,110004,110473,110474,115024,116790,118189,118191,119280,120766,121738,123125,124961],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2477","source_release":"retrieved-2026-09-12","summary":"X-linked ectodermal dysplasia is an inherited skin condition characterized by absent or abnormal teeth, hypotrichosis, and absent sweat glands. Other signs include decreased tear production, decreased mucociliary clearance, and symmetrical hairlessness. Affected animals are more susceptible to pulmonary infectious disease than normal dogs. Chronic nasal and ocular discharges are common, as are corneal ulceration and chronic demodecosis. The causative mutation is a point mutation in the ectodysplasin (EDA, also called ED1) gene. The mode of inheritance is X-linked recessive. Breeding of affected animals or known carriers is not recommended. Edited by Dr. Margret Casal","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200255"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":true,"characterised_year":2011,"clinical_features":"Bull terriers with polycystic kidney disease (PKD) have bilateral renal cysts (Gharahkhani et al., 20211). Clinical features include proteinuria, haematuria and  pyuria leading to terminal uraemia, poor body condition and signs of renal failure with middle to old age (O'Leary and Turner, 2004). PKD is usually diagnosed by the ultrasonographic detection of at least 3 cysts across the two kidneys and family history of the disease (O'Leary et al., 1999). Bull terriers with PKD have also shown signs of concurrent heart murmurs, increased prevalence of myxomatous mitral valve disease and more severe left ventricular outflow obstruction (O'Leary and Turner, 2004; O'Leary et al. 2005). \r\nIT thanks DVM student Gabrielle Park-McCabe, who provided the basis of this contribution in May 2023.\r\n\r\nThe Lagotto Romagnolo dogs with polycystic kidney disease investigated by Drögemüller et al. (2023) \"appeared clinically inconspicuous, while sonography revealed the presence of renal cysts.\"","defect":true,"group_name":"Polycystic kidney disease","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008263","iri":"http://purl.obolibrary.org/obo/MONDO_0008263","label":"polycystic kidney disease 1"}],"name":"Autosomal dominant polycystic kidney disease (ADPKD); Bull terrier polycystic kidney disease (BTPKD); renal cystic disease","omia_group_id":807,"omia_phene_id":2481,"omia_record_id":"OMIA:000807-9615","publication_ids":[4649,79374,82804,87324,101395,101412,107053,107339,109412,110411,110412,110413,110414,110415,110416,110419,120832,125338,127735],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2481","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dwarfism, hypochondroplastic","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"In the results from test matings, Hanssen et al. (1998) provided convincing evidence of autosomal recessive inheritance.","mondo_terms":[],"name":"Irish Setter dwarfism","omia_group_id":1296,"omia_phene_id":2486,"omia_record_id":"OMIA:001296-9615","publication_ids":[111979],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2486","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"}],"characterised":true,"characterised_year":2010,"clinical_features":"As photoreceptor differentiation occurs postnatally in dogs (Goldstein et al., 2010), clinical signs will present from around 3-10 weeks of age. Given the affected type of photoreceptors, reduced night vision and night blindness are a common initial clinical presentation (Acland et al., 1987). Affected animals can present with poor generalised vision. Retinal degeneration will occur rapidly in the first 6 months, and then more gradually thereafter (Berta et al., 2011). Complete loss of vision will be reached at around 12-18 months of age (Acland et al., 1987). IT thanks DVM student Martina Bai, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Early retinal degeneration","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Progressive retinal atrophy; retinal atrophy -2","omia_group_id":1297,"omia_phene_id":2488,"omia_record_id":"OMIA:001297-9615","publication_ids":[63140,66288,79867,79868,87051,106459,109349,111401,112004,115338,115539,120485,124796,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2488","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"American Eskimo Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200046"},{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Australian Stumpy Tail Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200097"},{"name":"Barbet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200119"},{"name":"Chesapeake Bay Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200326"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"Cockapoo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200370"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"Entlebucher Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200503"},{"name":"Finnish Lapphund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200523"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Goldendoodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200611"},{"name":"Karelian Bear Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200754"},{"name":"Kuvasz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200793"},{"name":"Labradoodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200798"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Lapponian Herder (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200814"},{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"},{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"},{"name":"Poodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201048"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Toy (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201061"},{"name":"Portuguese Podengo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201067"},{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"},{"name":"Schipperke (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201184"},{"name":"Silky Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201237"},{"name":"Spanish Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201280"},{"name":"Swedish Lapphund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201315"},{"name":"Swedish White Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201317"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2006,"clinical_features":"Clinical features of the disease are a result of degeneration of the rods and cones in the eye (Spencer et al., 2016). Dogs are born with normal vision but in adolescence or early adulthood begin to show clinical signs (Miyadera, 2014). The disease typically manifests initially as a lack of coordination in dim light and night blindness (Miyadera, 2014). Affected dogs may also show an aversion to bright lights, difficulty navigating familiar areas and failure to focus on small objects such as balls or toys (Miyadera, 2014). As the cones of the eye degenerate, the night blindness will progress to day blindness (Miyadera, 2012). Ultimately, the disease results in total blindness (Miaydera, 2012). Currently, there is no known cure or treatment for slowing down progression of PRCD. Progression varies between individuals but most dogs become completely blind in 1 – 2 years (Zangerl et al., 2006). [IT thanks DVM student Lauren Alam, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Progressive rod-cone degeneration, PRCD-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1298,"omia_phene_id":2489,"omia_record_id":"OMIA:001298-9615","publication_ids":[16257,66288,79869,80419,80921,81313,82992,84340,88408,107926,109006,111396,112004,112017,112018,115539,116245,116944,120017,120441,123184,123185,123186,123187,123188,123189,123310,123857,123917,124287,125219,125394,125653,126404,126405,129719,132518,132837],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2489","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Aplasia segmentalis ductus wolffii","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":56,"omia_phene_id":2499,"omia_record_id":"OMIA:000056-9615","publication_ids":[80376],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2499","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neuronal vacuolar disorder","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1303,"omia_phene_id":2503,"omia_record_id":"OMIA:001303-9615","publication_ids":[80360,82657],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2503","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Atherosclerosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":80,"omia_phene_id":2517,"omia_record_id":"OMIA:000080-9615","publication_ids":[80945,106137,122706],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2517","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund, Wire-Haired (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200423"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"}],"characterised":true,"characterised_year":2000,"clinical_features":"","defect":true,"group_name":"Mucopolysaccharidosis IIIA","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009655","iri":"http://purl.obolibrary.org/obo/MONDO_0009655","label":"mucopolysaccharidosis type 3A"}],"name":"","omia_group_id":1309,"omia_phene_id":2529,"omia_record_id":"OMIA:001309-9615","publication_ids":[82173,93329,93746,96653,99645,101505,109094,109098,110327,110330,116399,116400,117015,117016,117350,120540,120654,122329,125653,128324,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2529","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"}],"characterised":true,"characterised_year":2009,"clinical_features":"","defect":true,"group_name":"Ichthyosis, TGM1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009441","iri":"http://purl.obolibrary.org/obo/MONDO_0009441","label":"autosomal recessive congenital ichthyosis 1"}],"name":"Epidermolytic ichthyosis; TGase 1 deficient lamellar ichthyosis","omia_group_id":546,"omia_phene_id":2530,"omia_record_id":"OMIA:000546-9615","publication_ids":[82165,92414,109411,114161,122810,127986],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2530","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":true,"characterised_year":2019,"clinical_features":"Murgiano et al. (2019) reported \"Based on the limited number of cases examined by one of the authors (GDA), PRA-affected dogs were clinically indistinguishable from the earlier described photoreceptor dysplasia cases (Parshall et al. 1991). Clinical examinations using biomicroscopy and indirect ophthalmoscopy showed that affected dogs were normal when examined at 10 months of age or earlier. Subsequently, fundus changes indicative of PRA developed. By 3 years of age, affected dogs showed advanced retinal disease. They had slow and incomplete pupillary light reflexes, and showed poor vision in familiar surroundings or preferred to be in a crate and not moving around. ... Fundus abnormalities at ∼3 years of age were characteristic of mid-stage disease (Parshall et al. 1991), consisted of marked attenuation or loss of retinal vessels, diffuse hyperreflectivity and ridging of the tapetal region (an indication of retinal thinning) and RPE loss and pigment migration in the non-tapetal regions of the eye. Cataracts were not present at this time. Progression to end-stage retinal atrophy and blindness occurred with age, although we could not specify the age when these changes occurred as most of the samples and clinical records were submitted from dogs prior to this advanced disease stage.\" Kaukonen et al. (2020) reported that the clinical signs and age of onset \"closely resemble\" those reported in the same breed by Jeong et al. (2013). All 12 cases examined in Kaukonen et al. (2020) were totally blind before the age of five.","defect":true,"group_name":"Photoreceptor dysplasia, PPT1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Parshall et al. (1991): \"Pedigree analysis and test-mating studies conclusively establish that inheritance is autosomal recessive.\" Murgiano et al. (2019): \"Pedigree analysis suggested monogenic autosomal recessive inheritance\".","mondo_terms":[],"name":"Progressive retinal atrophy, type 1","omia_group_id":1311,"omia_phene_id":2534,"omia_record_id":"OMIA:001311-9615","publication_ids":[82942,85191,119006,119007,120494,120495,123136,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2534","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cardigan Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200290"},{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"}],"characterised":true,"characterised_year":1999,"clinical_features":"","defect":true,"group_name":"Retinal atrophy - Rod-cone dysplasia 3, PDE6A-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013437","iri":"http://purl.obolibrary.org/obo/MONDO_0013437","label":"retinitis pigmentosa 43"}],"name":"","omia_group_id":1314,"omia_phene_id":2544,"omia_record_id":"OMIA:001314-9615","publication_ids":[4408,85924,90663,108443,112004,116893,117646,117978,121193,124416,125219,125653,126404,129719,130017,130075],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2544","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Acromegaly","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":8,"omia_phene_id":2550,"omia_record_id":"OMIA:000008-9615","publication_ids":[84440,86739,121297],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2550","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Motor neuron disease, lower","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":662,"omia_phene_id":2566,"omia_record_id":"OMIA:000662-9615","publication_ids":[85541],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2566","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Mucopolysaccharidosis II","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1317,"omia_phene_id":2568,"omia_record_id":"OMIA:001317-9615","publication_ids":[85538,120540],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2568","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Epidermolysis bullosa","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":340,"omia_phene_id":2572,"omia_record_id":"OMIA:000340-9615","publication_ids":[83926,91008,117395],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2572","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2009,"clinical_features":"","defect":true,"group_name":"Elliptocytosis, SPTB-related","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0054780","iri":"http://purl.obolibrary.org/obo/MONDO_0054780","label":"elliptocytosis 3"}],"name":"","omia_group_id":1318,"omia_phene_id":2579,"omia_record_id":"OMIA:001318-9615","publication_ids":[88159,108581],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2579","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Atresia intestinal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":87,"omia_phene_id":2597,"omia_record_id":"OMIA:000087-9615","publication_ids":[88888,117764],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2597","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2013,"clinical_features":"As summarised by Vernau et al. (2013), \"Dogs with AHE may have acute onset of clinical signs, or chronic progressive waxing and waning clinical history. Typically, they have multifocal central nervous system deficits including seizures, altered mentation, dysphagia, absent menace response, central blindness, hypermetria, proprioceptive positioning deficits, facial hypoalgesia, ataxia and tetraparesis.\"","defect":true,"group_name":"Necrotising encephalopathy, subacute, of Leigh","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Alaskan Husky Encephalopathy (AHE)","omia_group_id":1097,"omia_phene_id":2606,"omia_record_id":"OMIA:001097-9615","publication_ids":[68955,88982,89771,109408,114071,116356,120947,122523,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2606","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"Berger Picard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200158"},{"name":"Black and Tan Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200168"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Clumber Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200366"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Czechoslovakian Wolfdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200402"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Field Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200519"},{"name":"German Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200585"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200867"},{"name":"Sussex Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201309"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":868,"omia_phene_id":2610,"omia_record_id":"OMIA:000868-9615","publication_ids":[3952,7335,7458,8511,90209,109279,118028,122218,125219,129669,132673],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2610","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Soft Coated Wheaten Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201260"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Protein-losing enteropathy","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"A GWAS conducted by Donnini et al. (2020) on \"106 related Gordon setters was used, including 6 affected dogs from an affected litter, 6 case controls from the same litter, 10 related/affected dogs, and 84 related/unaffected dogs\" revealed regions on six chromosomes contributing to variation in liability, consistent with multifactorial inheritance.","mondo_terms":[],"name":"","omia_group_id":1325,"omia_phene_id":2612,"omia_record_id":"OMIA:001325-9615","publication_ids":[90336,90430,92274,114036,117007,117362,117365,120466,121133,124297,129298,129374,129467,129935,130208,130328,132299,132461,132566],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2612","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Soft Coated Wheaten Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201260"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Protein-losing nephropathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1326,"omia_phene_id":2613,"omia_record_id":"OMIA:001326-9615","publication_ids":[90336,90430,113542,114036,115333],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2613","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bedlington Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200137"},{"name":"Irish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200704"},{"name":"Kromfohrlander (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200786"}],"characterised":true,"characterised_year":2014,"clinical_features":"As summarised by Drögemüller et al. (2014): \"Hyperkeratosis of the foot pads is noticed by the owners of both breeds at 4–5 months of age and involves all footpads. With time horny protrusions appear on the rims of the footpads and the pad surface becomes hard and develops cracks . . . . Affected animals avoid walking on irregular surfaces and may go lame. The nails of affected dogs are very hard and seem to grow faster. We noticed a duller, less wiry, softer coat on an affected Kromfohrländer . . . . Similar clinical symptoms were noted on 5 HFH affected Irish Terriers.\"","defect":true,"group_name":"Hyperkeratosis, palmoplantar, FAM83G-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Hereditary Footpad Hyperkeratosis","omia_group_id":1327,"omia_phene_id":2618,"omia_record_id":"OMIA:001327-9615","publication_ids":[90911,105951,115641,116235,120266,122810,123125,125653,127722],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2618","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Linear IgA disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1330,"omia_phene_id":2622,"omia_record_id":"OMIA:001330-9615","publication_ids":[90639,124289],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2622","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Eclampsia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1331,"omia_phene_id":2624,"omia_record_id":"OMIA:001331-9615","publication_ids":[91220,121083],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2624","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2003,"clinical_features":"As summarised by Lingaas et al. (2003), \"The disease is characterized by bilateral, multifocal tumors in the kidneys, uterine leiomyomas and nodules in the skin consisting of dense collagen fibers\". Ciccarelli et al. (2019) reported a case of \"Unilateral renal cystadenocarcinoma and nodular dermatofibrosis in a mixed-breed dog carrying . . . [the p.His255Arg] FLCN gene mutation\", concluding that \"This case supports the hypothesis that nodular dermatofibrosis is not a paraneoplastic syndrome associated with cystadenocarcinoma. It may be instead an independent dermatological feature of the same genetic disease, linked to the mutation of FLCN given that the cutaneous nodules in this dog increased in size and number after removal of the adenocarcinoma.\"","defect":true,"group_name":"Renal cystadenocarcinoma and nodular dermatofibrosis","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"A pedigree analysis by Lium and Moe (1985) implicated autosomal dominant inheritance, which was confirmed by Moe et al. (1998).","mondo_terms":[],"name":"Renal cancer syndrome, nodular dermatofibrosis and kidney disease","omia_group_id":1335,"omia_phene_id":2635,"omia_record_id":"OMIA:001335-9615","publication_ids":[61796,77830,78798,91262,91867,93001,93002,107048,109309,110072,114996,115167,115168,115169,115170,115171,115172,115173,118913,123125,127088,130409],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2635","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Epistaxis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":346,"omia_phene_id":2644,"omia_record_id":"OMIA:000346-9615","publication_ids":[93778,106949],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2644","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Foxhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200047"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"English Foxhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200490"},{"name":"Harrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200660"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Treeing Walker Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201374"}],"characterised":true,"characterised_year":2000,"clinical_features":"Catalase is an enzyme responsible for breaking down reactive oxygen species. As there are other enzymes able to fulfil this role, hypocatalasia often has no clinical signs. Hypocatalasia has been associated with ulcers of the oral cavity leading to gangrene, a condition known as “Takahara disease” in humans (Fukuda et al., 1982). The pathogenesis of this disease is explained by some oral bacteria producing hydrogen peroxide, which is unable to be decomposed due to catalase deficiency (Ogata et al. 2008).\r\n\r\nIT thanks DVM student Joumana Quinn, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Hypocatalasia","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1138,"omia_phene_id":2648,"omia_record_id":"OMIA:001138-9615","publication_ids":[94800,111851,111852,111853,111854,116893,116897,118018,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2648","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boykin Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200214"},{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"German Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200585"},{"name":"German Wirehaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200602"}],"characterised":true,"characterised_year":2004,"clinical_features":"","defect":true,"group_name":"Von Willebrand disease II","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1339,"omia_phene_id":2650,"omia_record_id":"OMIA:001339-9615","publication_ids":[43824,85251,95377,107063,112767,113689,113690,116385,117714,117715,117716,117717,123197,123201,123202,125653,125867],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2650","source_release":"retrieved-2026-09-12","summary":"see also <a href=\"../../../../../../OMIA001057/9615/\">OMIA:001057-9615</a> : Von Willebrand disease I in Canis lupus familiaris, <a href=\"../../../../../../OMIA001058/9615/\">OMIA:001058-9615</a> : Von Willebrand disease III in Canis lupus familiaris and <a href=\"../../../../../../OMIA001056/9615/\">OMIA:001056-9615</a> : Von Willebrand disease, generic in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Leukodystrophy, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Dalmatian leukodystrophy; miniature poodle demyelination","omia_group_id":1130,"omia_phene_id":2661,"omia_record_id":"OMIA:001130-9615","publication_ids":[5839,6679,8501,124810],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2661","source_release":"retrieved-2026-09-12","summary":"Information about canine spongiform leukoencephalomyelopathy or Shetland Sheepdog leukodystrophy in Shetland Sheepdogs and Australian cattle dogs due to mutations in the mitochondrial CYTB gene have been moved to 'OMIA:002684-9615 : Leukodystrophy, CYTB-related in Canis lupus familiaris'. Other forms of leukodystrophy exist and have separate entries. [3/5/2023]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Borzoi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200197"},{"name":"Dogue de Bordeaux (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200450"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tricuspid valve dysplasia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Ohad et al. (2013) provided evidence for autosomal recessive inheritance in Dogue de Bordeaux dogs in Israel.","mondo_terms":[],"name":"Canine tricuspid valve malformation (CTVM)","omia_group_id":1345,"omia_phene_id":2672,"omia_record_id":"OMIA:001345-9615","publication_ids":[73537,101133,107078,107622,110025,110242,110243,110244,113593,114156,120859,124168,125307,127738],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2672","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bull Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200253"},{"name":"English Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200492"}],"characterised":true,"characterised_year":2002,"clinical_features":"As detailed by Kijas et al. (2002), rod vision is normal for at least the first few months. But by 12-18 months, degeneration is evident, spreading slowly from a disease focus in one retinal region. In addition, there is an abnormally slow recovery of rod photoreceptor function after exposure to light.Homozygotes have more severe clinical signs than heterozygotes [Frank Nicholas, 26 June 2002] Iwabe et al. (2016) reported that \"a short single exposure to a dose of white light that is not retinotoxic in [wild-type] WT dogs causes in the T4R RHO retina an acute loss of ONL in the central to mid peripheral region that keeps progressing over the course of several weeks. However, this severe retinal damage does not affect visual behavior presumably because of islands of surviving photoreceptors found in the area centralis including the newly discovered canine fovea-like area, and the lack of damage to peripheral photoreceptors.\"","defect":true,"group_name":"Retinal atrophy, progressive, autosomal dominant, RHO-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"retinitis pigmentosa","omia_group_id":1346,"omia_phene_id":2673,"omia_record_id":"OMIA:001346-9615","publication_ids":[100762,107018,108757,109492,109493,112004,116437,116438,116439,117479,118129,123316,124796,125219,126404,129012,129719,129760,130075],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2673","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"}],"characterised":true,"characterised_year":2002,"clinical_features":"","defect":true,"group_name":"Severe combined immunodeficiency disease, autosomal, PRKDC-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Combined immunodeficiency disease","omia_group_id":220,"omia_phene_id":2674,"omia_record_id":"OMIA:000220-9615","publication_ids":[100126,101000,109405,109406,113418],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2674","source_release":"retrieved-2026-09-12","summary":"See: '<a href=\"https://omia.org/OMIA001574/9615/\">OMIA:001574-9615</a> : Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive in Canis lupus familiaris' for a autosomal severe combined immunodeficiency due genetic variants in the RAG1 gene.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Fibrodysplasia ossificans","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":388,"omia_phene_id":2679,"omia_record_id":"OMIA:000388-9615","publication_ids":[98817],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2679","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Urolith, KMgP","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1349,"omia_phene_id":2685,"omia_record_id":"OMIA:001349-9615","publication_ids":[100493],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2685","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Perro de Presa Canario (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201000"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":true,"characterised_year":2015,"clinical_features":"In a clinical setting CSS typically manifests as post-operative bruising and haematoma formation with a few reports of nontraumatic haemorrhage into joints and soft tissue and epistaxis. These clinical signs differ from classic platelet defects; and as platelet count, coagulation &amp; VWF screening tests are all normal, this makes diagnosis of a platelet procoagulant deficiency complicated (Jandrey et al., 2012). [IT thanks DVM student Alexandra Norris, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Scott syndrome","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Autosomal recessive inheritance was indicated by the segregation analysis of Brooks et al. (2010).","mondo_terms":[{"id":"MONDO:0009885","iri":"http://purl.obolibrary.org/obo/MONDO_0009885","label":"Scott syndrome"}],"name":"Procoagulant expression; Canine Platelet Procoagulant Deficiency; Deficiency of Platelet Receptor for Factor X","omia_group_id":1353,"omia_phene_id":2693,"omia_record_id":"OMIA:001353-9615","publication_ids":[100172,109235,109574,109575,109576,112965,117298,123324,124288,125653,125867],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2693","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Lancashire Heeler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200808"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"Miniature American Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200880"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":true,"characterised_year":2002,"clinical_features":"","defect":false,"group_name":"Coat colour, brown, TYRP1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"This is the classic B (Brown) locus described by Little (1957)","omia_group_id":1249,"omia_phene_id":2695,"omia_record_id":"OMIA:001249-9615","publication_ids":[101752,109460,110218,112361,117707,117813,117814,118085,118575,119928,119945,120277,120501,121145,122792,123917,124017,124803,125653,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2695","source_release":"retrieved-2026-09-12","summary":"Brancalion et al. (2021): \"The Brown (B) locus is controlled by Tyrosinase-related protein 1 (TYRP1. I), located on CFA11 (Schmutz et al. 2002). TYRP1. I encodes an intramelasomal peptide with a key role in the pathway of eumelanin biosynthesis (Kaelin et al. 2012). Consequently, variants in TYRP1 disrupt the production of eumelanin but have no effect on pheomelanin synthesis. Three recessive TYRP1 alleles, termed ‘bs’, ‘bd’ and ‘bc’, are commonly responsible for the dilution of black pigment to brown (Schmutz et al. 2002; ...). The dominant wt allele, ‘B’, favours the production of normal black eumelanin. ... As TYRP1 variants affect the synthesis of eumelanin and not pheomelanin, they have no effect on coat colour in dogs that are homozygous recessive at MC1R (e/e). Further, the variation in coat colour from yellow to red in e/e dogs was not found to be attributed to variants at the Brown locus (Schmutz et al. 2002). A two-gene interaction between the genotype at TYRP1 and MC1R, however, has been found to determine colouration of the nose and paw pads. Normally black, the nose and paw pads of E/e or E/E dogs with two or more recessive Brown alleles were found to be lightened to brown, whereas in e/e dogs, the normally black nose and paw pads were lightened to either brown or ‘self’ coloured. This phenomenon occurs because different genetic pathways control the migration of pigment into the hair shaft and keratinised skin (Schmutz et al. 2002; Schmutz &amp; Berryere 2007).\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Coat colour, dominant white","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":209,"omia_phene_id":2699,"omia_record_id":"OMIA:000209-9615","publication_ids":[102074,102132],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2699","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Nephritis, autosomal recessive (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Information about this condition has been moved to OMIA000710-9615: Nephropathy in Canis lupus familiaris [23/05/2022]","omia_group_id":1359,"omia_phene_id":2705,"omia_record_id":"OMIA:001359-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2705","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dysplasia epiphysealis hememelica","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1361,"omia_phene_id":2707,"omia_record_id":"OMIA:001361-9615","publication_ids":[103261],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2707","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Vitamin-K-dependent blood coagulation factors deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1054,"omia_phene_id":2711,"omia_record_id":"OMIA:001054-9615","publication_ids":[101596],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2711","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ataxia, progressive, with head tremor and seizures","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1363,"omia_phene_id":2715,"omia_record_id":"OMIA:001363-9615","publication_ids":[102956],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2715","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cerebellar degeneration","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1221,"omia_phene_id":2716,"omia_record_id":"OMIA:001221-9615","publication_ids":[2600,7827,51183,103289,106519,117874,117875,117876,125285,125291,127418,127419],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2716","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"Miniature Australian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200881"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":true,"characterised_year":2002,"clinical_features":"","defect":true,"group_name":"Achromatopsia-3, CNGB3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009875","iri":"http://purl.obolibrary.org/obo/MONDO_0009875","label":"achromatopsia 3"}],"name":"cone degeneration","omia_group_id":1365,"omia_phene_id":2720,"omia_record_id":"OMIA:001365-9615","publication_ids":[1377,5247,104947,109163,109380,109664,112004,113610,113696,117202,118102,120515,123310,123721,125219,129012,129719,129760,130075],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2720","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Achalasia of the oesophagus, congenital","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3,"omia_phene_id":2725,"omia_record_id":"OMIA:000003-9615","publication_ids":[105211],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2725","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Follicular dysplasia and interface dermatitis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1369,"omia_phene_id":2726,"omia_record_id":"OMIA:001369-9615","publication_ids":[106145],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2726","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200258"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Acrochordonous plaque","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1370,"omia_phene_id":2727,"omia_record_id":"OMIA:001370-9615","publication_ids":[106156],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2727","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2007,"clinical_features":"","defect":true,"group_name":"L-2-hydroxyglutaricacidemia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009370","iri":"http://purl.obolibrary.org/obo/MONDO_0009370","label":"L-2-hydroxyglutaric aciduria"}],"name":"L-2-hydroxyglutaric aciduria","omia_group_id":1371,"omia_phene_id":2728,"omia_record_id":"OMIA:001371-9615","publication_ids":[98804,106159,106300,107311,109504,109505,109506,113019,113020,115876,117170,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2728","source_release":"retrieved-2026-09-12","summary":"The first cases of this inborn error of metabolism in animals were reported by Abramson et al. (2001, 2003) [FN: 7 Oct 2003]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2013,"clinical_features":"As summarised by Jagannathan et al. (2013), \"HNPK affected dogs develop crusts and fissuring of the nasal planum at a young age but are otherwise healthy. The pathognomonic histopathological changes consist of a marked diffuse parakeratotic hyperkeratosis characterized by the retention of nuclei in the stratum corneum and an accumulation of proteinaceous fluid (“serum lakes”) within the stratum corneum\".","defect":true,"group_name":"Nasal parakeratosis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Page et al. (2003) reported evidence consistent with autosomal recessive inheritance.","mondo_terms":[],"name":"Hereditary nasal parakeratosis","omia_group_id":1373,"omia_phene_id":2730,"omia_record_id":"OMIA:001373-9615","publication_ids":[105049,106484,115005,117895,120479,123125,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2730","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Imperforate anus with rectovaginal fistula","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":559,"omia_phene_id":2735,"omia_record_id":"OMIA:000559-9615","publication_ids":[106309],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2735","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2005,"clinical_features":"Centronuclear myopathy in Labradors presents with weakness, hypotonia, paresis and progressive skeletal muscle atrophy from at about 1 month of age (Walmsley et al., 2016).  In rare cases, clinical signs may not become apparent until as late as 6 months of age. Affected dogs have abnormal deep tendon reflexes. Clinical signs become initially increasingly severe but may stabilise at approximately one year of age (Blot et al., 2002). There are a range of clinical presentations, ranging from mild disease with reduced exercise tolerance and gait abnormalities to more severe presentations involving obvious skeletal muscle atrophy and collapse. Dogs can have reduced muscle tone of the oesophagus leading to difficulties swallowing and a risk of sudden death, which can be reduced by gravity-assisted feeding (McKerrel & Braund, 1987). Clinical signs may be exacerbated by exposure to cold weather (McKerrel & Braund 1987).\r\nIT thanks DVM student Leo Rubinstein, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Centronuclear myopathy, HACD1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Tiret et al. (2003) showed that this disorder is autosomal recessive.","mondo_terms":[],"name":"Type II fiber deficiency; Autosomal recessive muscular dystrophy; Hereditary myopathy of Labrador retrievers (HMLR)","omia_group_id":1374,"omia_phene_id":2737,"omia_record_id":"OMIA:001374-9615","publication_ids":[2538,103490,106358,109292,109293,109294,109295,111519,111527,112389,113900,113901,113902,113903,113904,113905,114989],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2737","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Spherocytosis","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Hereditary spectrin deficiency","omia_group_id":1228,"omia_phene_id":2755,"omia_record_id":"OMIA:001228-9615","publication_ids":[107026,124797,125163],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2755","source_release":"retrieved-2026-09-12","summary":"Slappendel et al. (2005) were the first to describe hereditary spectrin deficiency in dogs: \"A radioimmunoassay revealed that erythrocyte spectrin concentration was 50-65% of normal in 5 adult Golden Retriever dogs, which had recovered from hemolytic anemia but whose OF [osmotic fragility] had persistently remained increased. OF also was increased and spectrin concentration was decreased (60-73%) in 10 dogs of an apparently healthy family of 19 Golden Retrievers related to a proband. Pedigree analysis revealed autosomal dominant inheritance. ... It is not clear whether spectrin deficiency in Golden Retrievers may result in hemolytic anemia, as in humans.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hemimelia, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":450,"omia_phene_id":2757,"omia_record_id":"OMIA:000450-9615","publication_ids":[107029],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2757","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Collie Rough (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200376"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Long-Haired Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200833"},{"name":"McNab Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200872"},{"name":"Miniature Australian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200881"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Silken Windhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201235"},{"name":"Waller (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201394"},{"name":"White Swiss Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201423"}],"characterised":true,"characterised_year":2001,"clinical_features":"In the 1980s, dogs of predominantly herding breeds were reported with adverse effects following drug administration. When these dogs are administered xenobiotics at an appropriate dose, the drug accumulates in the brain leading to severe neurotoxicity. Affected animals may present with generalised tremor, agitation, severe panting, hypersalivation, lethargy, disorientation, depression, mydriasis, loss of menace, loss of papillary light responses, blindness, seizures, proprioceptive ataxia, weakness, bradycardia, obtundation, recumbency and coma (Mealey et al., 2001; Bissonnette et al., 2009; Gaens et al., 2019). Mydriasis is suggested to be the most sensitive sign (Bissonnette et al., 2009). [IT thanks DVM student Hannah Edgell for contributions to this entry in April 2022]","defect":true,"group_name":"Multidrug resistance 1, ABCB1-related","inheritance":{"code":"AID","name":"Autosomal incomplete dominant"},"inheritance_text":"The mode of inheritance was initially considered as autosomal recessive. However, Mealey et al. (2003) reported a single dog, who was heterozugous for the ∆MDR1 [omia.variant:469], with increased toxicity of P-glycoprotein-substrate chemotherapeutic agents, and Mealey and Meurs (2008) suggest that 'heterozygous dogs appear to have an intermediate phenotype with respect to responses to avermectins'. Thus an incomplete dominant mode of inheritance may be considered.","mondo_terms":[],"name":"Ivermectin sensitivity","omia_group_id":1402,"omia_phene_id":2759,"omia_record_id":"OMIA:001402-9615","publication_ids":[107020,107050,107068,107069,107099,107781,107782,107783,107784,107785,107786,107787,107788,107789,107790,107791,107792,107793,108426,108427,108428,108429,108430,108431,108725,109164,109167,109168,109169,109330,109394,110168,110288,110638,112554,112583,112950,113158,115293,115294,115295,115296,115297,115298,115299,115300,115301,115302,115356,116708,116840,116893,118056,119241,120106,120433,121760,122750,123000,123304,123305,123306,123588,123589,123856,124147,124388,125478,125653,126695,126696,127696,128300,129856,130048,130136,130739,132128,132279,132713,133212],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2759","source_release":"retrieved-2026-09-12","summary":"Multidrug resistance 1 is caused by a lack of P-glycoprotein drug transporter in the blood-brain barrier, which is characterized by neurotoxicity after administration of certain drugs.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pancreatitis, hereditary","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1403,"omia_phene_id":2760,"omia_record_id":"OMIA:001403-9615","publication_ids":[107059,108601,109379,127495,133171,133535],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2760","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"}],"characterised":true,"characterised_year":2004,"clinical_features":"","defect":false,"group_name":"Metabolizer of a cognitive enhancer","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Protein deletion","omia_group_id":1405,"omia_phene_id":2762,"omia_record_id":"OMIA:001405-9615","publication_ids":[107066,107067,112890,112891,112892,124860,125252,125653,130484,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2762","source_release":"retrieved-2026-09-12","summary":"In the first of two papers, Mise et al. (2004; Drug Metab Dispos 32:240-5) reported a polymorphism in ability to metabolize a novel cognitive enhancer AC-3933. Tenmizu et al. (2004) reported a similar polymorphism for a novel and selective phosphodiesterase type 4 inhibitor, YM-64227. In both cases, dogs were classified as poor metabolizers (PM) or extensive metabolizers (EM).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2007,"clinical_features":"","defect":false,"group_name":"Coat colour, white spotting","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"This locus was described by Little (1957). As summarised by Körberg et al. (2014), Little \"described four different alleles at this locus with phenotypic effects ranging from solid (S, . . .), to a completely white coat, caused by homozygosity for the Extreme white allele (sw, . . .). The two intermediate phenotypes were named Irish spotting (si, . . .) and piebald (sp, . . .). Irish spotting is characterized by modest white spotting, often present as a white collar and a white belly, as demonstrated by breeds such as the Bernese Mountain dog and Basenji. Piebald-coloured dogs display limited to extensive white spotting and the phenotype is observed in several breeds, including the Beagle and Fox Terrier.\"","mondo_terms":[],"name":"","omia_group_id":214,"omia_phene_id":2763,"omia_record_id":"OMIA:000214-9615","publication_ids":[13593,107455,108246,109588,109590,109600,109601,109833,115759,119928,120501,121048,121377,121827,122792,124015,124016,124017,124932],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2763","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Clumber Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200366"},{"name":"Sussex Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201309"}],"characterised":true,"characterised_year":2007,"clinical_features":"Affected dogs show exercise intolerance, lactic acidosis, and post-exercise collapse.\r\nManagement includes exercise restriction and a high-fat diet with thiamine and carnitine supplementation (Cameron et al., 2007).\r\n","defect":true,"group_name":"Pyruvate dehydrogenase deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012120","iri":"http://purl.obolibrary.org/obo/MONDO_0012120","label":"pyruvate dehydrogenase phosphatase deficiency"}],"name":"","omia_group_id":1406,"omia_phene_id":2765,"omia_record_id":"OMIA:001406-9615","publication_ids":[4826,107071,107073,110406,110407,110408],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2765","source_release":"retrieved-2026-09-12","summary":"Deficiency in pyruvate dehydrogenase phosphatase 1 in Clumber and Sussex Spaniels is characterized by exercise intolerance, lactic acidosis, and collapse after exercise. The causative mutation is the same in these breeds. \r\n\r\nEdited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lymphoproliferative disease","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Modiano et al. (2005) presented evidence of between-breed variation.","mondo_terms":[],"name":"LPD","omia_group_id":1409,"omia_phene_id":2770,"omia_record_id":"OMIA:001409-9615","publication_ids":[107100],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2770","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Anodontia","inheritance":null,"inheritance_text":"\"The results of integrated segregation analysis indicated heterogeneous genetic control of different forms of hypodontia. The geneses of different premolars in dogs have been demonstrated to be described by different models of inheritance: the absence of the second premolars can be described by the recessive major-gene model, whereas the agenesis of the fourth premolars have a more complex genetic mechanism and cannot be described by the model of a simple major-gene control.\" (Aksenovich et al., 2004)","mondo_terms":[],"name":"","omia_group_id":48,"omia_phene_id":2774,"omia_record_id":"OMIA:000048-9615","publication_ids":[107286,110745,129266],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2774","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Patent urachus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":781,"omia_phene_id":2782,"omia_record_id":"OMIA:000781-9615","publication_ids":[107348],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2782","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Schipperke (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201184"}],"characterised":true,"characterised_year":2020,"clinical_features":"Affected dogs show clinical signs of cerebellar disease including ataxia and tremor with adult onset at approximately three years of age (Ellinwood et al., 2003).","defect":true,"group_name":"Mucopolysaccharidosis IIIB","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1342,"omia_phene_id":2785,"omia_record_id":"OMIA:001342-9615","publication_ids":[107364,107765,110330,120472,120515,120540,121078,123397,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2785","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Norfolk Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200945"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"}],"characterised":true,"characterised_year":2005,"clinical_features":"\"Adult [Norfolk Terrier] dogs with the disease had generalized, pigmented hyperkeratosis with epidermal fragility.\" (Credille et al., 2005) Kiener et al. (2023) investigated an \"11-month-old male Chihuahua ... with severe skin lesions gradually progressing from 5 months of age. Clinical examination revealed severe, multifocal hyperkeratosis, mainly affecting paw pads, axillas and the skin around the anus, lips and eyes ... .\"","defect":true,"group_name":"Hyperkeratosis, epidermolytic","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"Mode of inheritance is described as recessive in Norfolk Terriers and as likely dominant in a single Chihuahua (Credille et al., 2005; Kiener et al., 2023).","mondo_terms":[],"name":"Epidermolytic hyperkeratosis; epidermolytic ichthyosis","omia_group_id":1415,"omia_phene_id":2787,"omia_record_id":"OMIA:001415-9615","publication_ids":[107400,107401,107402,107413,123125,123600,125269,125653,127701,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2787","source_release":"retrieved-2026-09-12","summary":"This disorder is a form of ichthyosis.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2007,"clinical_features":"","defect":false,"group_name":"Coat colour, dominant black","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1416,"omia_phene_id":2788,"omia_record_id":"OMIA:001416-9615","publication_ids":[107410,108244,108341,109581,109586,110284,120501,121090,122792,123008,123917,124017,125653,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2788","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cricopharyngeal dysfunction","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"CD","omia_group_id":1418,"omia_phene_id":2791,"omia_record_id":"OMIA:001418-9615","publication_ids":[107458,130828],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2791","source_release":"retrieved-2026-09-12","summary":"As reported by Davidson et al. (2004), \"The CD phenotype was determined by videofluoroscopy, and dogs were classified as affected if the upper esophageal sphincter (UES) did not open, if there were morphologic abnormalities of the UES, or if opening of the UES was delayed for > or = 6 videofluoroscopic frames (0.2 seconds) after closure of the epiglottis.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Aortic aneurysm, familial thoracic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1419,"omia_phene_id":2792,"omia_record_id":"OMIA:001419-9615","publication_ids":[107463],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2792","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pulmonary adenomatosis","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Egenvall et al. (2004) estimated heritabilities of 0.34 and 0.28 from two different birth-year cohorts. ","mondo_terms":[],"name":"","omia_group_id":840,"omia_phene_id":2793,"omia_record_id":"OMIA:000840-9615","publication_ids":[107464],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2793","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal dysplasia and persistent primary vitreous","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1420,"omia_phene_id":2794,"omia_record_id":"OMIA:001420-9615","publication_ids":[107466],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2794","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Patent ductus venosus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1173,"omia_phene_id":2804,"omia_record_id":"OMIA:001173-9615","publication_ids":[107631],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2804","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Gangliosidosis, GM2, (AB variant), GM2A-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010099","iri":"http://purl.obolibrary.org/obo/MONDO_0010099","label":"Tay-Sachs disease AB variant"}],"name":"","omia_group_id":1427,"omia_phene_id":2816,"omia_record_id":"OMIA:001427-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2816","source_release":"retrieved-2026-09-12","summary":"Redundant - retained for data consistancy. Information previously listed here about a GM2 gangliosidosis in Japanese Chin dogs was moved to <a href=\"https://omia.org/OMIA001461/9615/\">OMIA:001461-9615</a> : Gangliosidosis, GM2, type I (B variant) in Canis lupus familiaris (dog) [19/06/2024]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"}],"characterised":true,"characterised_year":2011,"clinical_features":"Affected dogs present with fever, gastrointestinal signs, polyarthritis, joint effusion, and lameness and failure to thrive between 6 and 12 weeks of age and have a characteristic ‘ferret-like’ elongated face (Allen et al., 1996; Shearman &amp; Wilton, 2011; Mizukami et al., 2012; Mason et al., 2014; Hegler et al., 2020). Proprioception and placing and hopping reflexes were markedly reduced, while skin reflex and deep pain sensations were normal (Mizukami et al., 2012). Decreased level of consciousness, astasia, and incontinence were also reported by Mizukami et al. (2012). Ill thrift and continued recurrent/chronic infections are hallmark features (Hegler et al., 2020). Dogs are commonly dying or being euthanised by one year of age (Wouda et al. 2010). [IT thanks DVM students Laura Sweeting and Tracy Yeung, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Trapped Neutrophil Syndrome","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1428,"omia_phene_id":2817,"omia_record_id":"OMIA:001428-9615","publication_ids":[67430,107758,108303,110176,112576,113600,116840,121266,123205,123206,123207,123868,126519,127365,127805,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2817","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund, Miniature Long-Haired (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200409"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"}],"characterised":true,"characterised_year":2006,"clinical_features":"\"The earliest ophthalmoscopic signs, which include changes in the granular appearance of the tapetal fundus followed by generalized tapetal hyperreflectivity and retinal vascular attenuation, are detectable at approximately 6 months of age. The electroretinogram of affected dogs is typically normal in waveform and latency at 10 weeks of age but markedly reduced in amplitude or even virtually extinguished by 9 months.\" (Mellersh et al., 2006)","defect":true,"group_name":"Retinal atrophy - Cone-rod dystrophy 4","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Early-onset cone-rod dystrophy, RPGRIP1-CRD","omia_group_id":1432,"omia_phene_id":2822,"omia_record_id":"OMIA:001432-9615","publication_ids":[37852,107842,109280,109494,111393,112004,112094,112095,112156,112171,112670,112671,113344,117846,117847,117848,118114,124449,125219,125776,126404,127544,128871,129719,132390],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2822","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Knobbed acrosome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":576,"omia_phene_id":2831,"omia_record_id":"OMIA:000576-9615","publication_ids":[107925],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2831","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Irish Wolfhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200706"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"},{"name":"Scottish Deerhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201195"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Osteosarcoma","inheritance":null,"inheritance_text":"In addition to somatic mutations leading to osteosarcoma, it is likely that regulatory, non-coding variants underlie the increased risk for cancer development in some breeds. Momen et al. (2021) estimated that the heritability of osteosarcoma in the Irish Wolfhound was 0.65 and Letko et al. (2021) estimated heritability (h2SNP) to be 20.6% in Leonberger dogs based on a breed prevalence of 20%.","mondo_terms":[],"name":"","omia_group_id":1441,"omia_phene_id":2840,"omia_record_id":"OMIA:001441-9615","publication_ids":[108209,108210,108211,108212,108213,108214,108216,108217,108218,108219,108220,108221,108222,108223,109314,109315,109316,109317,109318,109319,109320,109321,109322,109323,109324,114091,114223,115349,116051,116068,117772,118180,118747,119273,119581,121153,121447,122590,122611,122636,122776,122893,122894,122987,123157,123260,123261,124166,124357,124712,124868,125025,125120,125162,125165,125221,125323,125662,125665,125879,125944,126042,126432,126555,126656,126972,127031,127143,127325,127379,127384,127614,128076,128489,128576,128989,129412,129548,129693,129923,129958,130110,130122,130558,130727,130809,130838,130840,131120,132117,132248,132316,132345,132487,132570,132714,132726,132779,133010,133040,133193,133345,133440],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2840","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200034"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Boerboel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200185"},{"name":"Bull Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200253"},{"name":"Dogue de Bordeaux (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200450"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"English Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200492"},{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"},{"name":"Italian Cane Corso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200712"},{"name":"Perro de Presa Canario (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201000"}],"characterised":true,"characterised_year":2007,"clinical_features":"Signs of cmr1 develop around 13 weeks of age, and include multiple tan-pink subretinal patches in both the tapetal and the non-tapetal fundus along with focal areas of tapetal hyper-reflectivity. The lesions elevate the retina. They progress as the animal ages to focal areas of retinal degeneration and retinal pigment epithelial hypertrophy and pigmentation (Grahn et al., 1998).","defect":true,"group_name":"Multifocal retinopathy 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0700239","iri":"http://purl.obolibrary.org/obo/MONDO_0700239","label":"BEST1-related recessive retinopathy"}],"name":"Canine multifocal retinopathy","omia_group_id":1444,"omia_phene_id":2845,"omia_record_id":"OMIA:001444-9615","publication_ids":[108237,109605,109893,110283,112004,112157,112340,115070,116012,116893,122029,124287,125219,126702,127074,127859,129012,129036,129719,129760,130075,133228],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2845","source_release":"retrieved-2026-09-12","summary":"Canine multifocal retinopathy (cmr) is an ocular disorder characterized by multiple areas of retinal degeneration. The detection of three different mutations in the one gene (BEST1) has led to the naming of three different forms of the disorder (cmr1 [OMIA:001444-9615], cmr2 [<a href=\"../../../../../../OMIA001553/9615/\">OMIA:001553-9615</a>], cmr3 [<a href=\"../../../../../../OMIA001554/9615/\">OMIA:001554-9615</a>]), all of which are very similar clinically. The form of cmr detailed in this entry (cmr1) occurs in several breeds (listed below).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Spondyloepiphyseal dysplasia, congenital type","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"X-linked spondylo-epiphyseal dysplasia tarda","omia_group_id":1448,"omia_phene_id":2854,"omia_record_id":"OMIA:001448-9615","publication_ids":[108300],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2854","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2011,"clinical_features":"","defect":false,"group_name":"Coat colour, harlequin","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1454,"omia_phene_id":2865,"omia_record_id":"OMIA:001454-9615","publication_ids":[83192,108364,108365,110250,120501,122792,124017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2865","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund, Miniature Wire-Haired (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200411"},{"name":"Dachshund, Standard Wire-Haired (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200421"}],"characterised":true,"characterised_year":2008,"clinical_features":"","defect":true,"group_name":"Retinal atrophy - Cone-rod dystrophy, NPHP4-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011756","iri":"http://purl.obolibrary.org/obo/MONDO_0011756","label":"Senior-Loken syndrome 4"}],"name":"Cone-rod dystrophy, standard Wire-haired dachshund; progressive retinal atrophy crd SWD","omia_group_id":1455,"omia_phene_id":2866,"omia_record_id":"OMIA:001455-9615","publication_ids":[108369,109413,112004,112118,112119,115682,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2866","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Stereotypes","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1459,"omia_phene_id":2871,"omia_record_id":"OMIA:001459-9615","publication_ids":[108432],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2871","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boykin Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200214"},{"name":"Chesapeake Bay Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200326"},{"name":"Curly Coated Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200397"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"}],"characterised":true,"characterised_year":2008,"clinical_features":"Affected dogs have normal muscle mass, normal patellar reflexes before an episode of EIC, normal findings on muscle biopsy and are capable of moderate exertion without showing signs (Taylor et al., 2008, Patterson et al., 2008). Signs begin within 2 minutes after cessation of 5 to 15 minutes of strenuous exercise. Affected dogs develop a wobbly gait with hindlimb weakness and incoordination, wide based stance, and walking with crouched hind legs. Signs can progress to full body weakness, extensor rigidity, confusion, loss of consciousness, and rarely death. Episodes frequently last 5-10 minutes, often with complete recovery after 30 minutes. Loss of patellar reflexes persists after initial recovery.","defect":true,"group_name":"Exercise-induced collapse","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Exercise-induced callapse in Labrador retrievers is a Mendelian trait. Norton et al. (2021) concluded that the disease in border collies (BCC) is a moderately- to highly-heritable complex polygenetic disease.","mondo_terms":[],"name":"","omia_group_id":1466,"omia_phene_id":2885,"omia_record_id":"OMIA:001466-9615","publication_ids":[108545,108546,110428,110429,110430,111896,112389,113759,114779,114989,116800,117079,120017,122957,125653,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2885","source_release":"retrieved-2026-09-12","summary":"Exercise-induced collapse (EIC) is an inherited neuromuscular disorder characterized by exercise intolerance in otherwise healthy young adult dogs. Clinical signs are precipitated by strenuous exercise. A causative mutation in dynamin 1 has been identified in retriever breeds listed below, but not yet in Border Collies. [Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT in 2011; revised by FN 29 Oct 2020]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2009,"clinical_features":"","defect":true,"group_name":"Neuropathy, sensory ataxic","inheritance":{"code":"MIT","name":"Mitochondrial"},"inheritance_text":"This disorder showed maternal transmission: all affected dogs in a pedigree traced back to a single female, which is consistent with mitochondrial inheritance.","mondo_terms":[],"name":"","omia_group_id":1467,"omia_phene_id":2888,"omia_record_id":"OMIA:001467-9615","publication_ids":[108574,108575,124009,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2888","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"Peruvian Hairless Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201004"},{"name":"Xoloitzcuintli (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201436"}],"characterised":true,"characterised_year":2008,"clinical_features":"Affected dogs have varying degrees of hairlessness but most commonly, almost the entire body is affected. Depending on the breed, there will be tufts of hair on the distal limbs and the top of the head. Some dogs have very abnormal teeth, many of which are missing. Others appear to have only mild abnormalities. Toenails may be long and brittle. Neonatal deaths are more common in hairless pups than in their normal littermates. Wiener et al. (2013) provided extensive details of the clinical and histological differences between the \"three subphenotypes (true hairless, semi-coated and powderpuffs) of Chinese crested dogs\" and also \"clearly demonstrated distinct differences between the canine ectodermal dysplasia in Chinese crested dogs and dogs with X-linked ectodermal dysplasia\".","defect":true,"group_name":"Ectodermal dysplasia","inheritance":{"code":"AID","name":"Autosomal incomplete dominant"},"inheritance_text":"","mondo_terms":[],"name":"Canine ectodermal dysplasia","omia_group_id":323,"omia_phene_id":2890,"omia_record_id":"OMIA:000323-9615","publication_ids":[38784,80022,107261,108582,108583,113695,115024,117501,117656,123125,124961],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2890","source_release":"retrieved-2026-09-12","summary":"Canine ectodermal dysplasia is characterized by hairlessness and missing or abnormally shaped teeth. Early breeding studies demonstrated embryonal lethality of homozygous mutant animals and an autosomal semidominant mode of inheritance (Robinson, 1985). In detail, homozygous mutant embryos die very early during pregnancy and are resorbed, heterozygous dogs exhibit the ectodermal dysplasia phenotype, which is characteristic of several hairless dog breeds. Later studies showed the trait is caused by a 7 bp duplication in exon 1 of FOXI3. This is a desired trait in several breeds, including the Peruvian Inca, Mexican Hairless, and Chinese Crested Dog. Edited by Dr. Margret Casal<br><br>See also <a href=\"../../../../../../OMIA001279/9615/\">OMIA:001279-9615</a> : Hypotrichosis, recessive in Canis lupus familiaris (dog)","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"Ibizan Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200688"},{"name":"Kerry Blue Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200764"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2013,"clinical_features":"Stee et al. 2023: \"This disease has an onset of signs between 9 weeks and 6 months of age. Dogs initially present a mild intention tremor and stiffness in thoracic limb gait, which progresses within 3 to 4 months to severe hypermetric ataxia, spasticity, truncal sway, wide-based stance, delayed postural reactions, and decreased menace response [de Lahunta and Averill, 1976; Deforest et al., 1978; Montgomery and Storts, 1983; O'Brien et al. 2005; de Lahunta et al., 2021]. Signs progress to akinesia, inability to stand and euthanasia by 1 to 2 years of age. Cerebellar atrophy and T2W hyperintensity at the level of the caudate nuclei, putamen, and substantia nigra are visible on MRI in dogs affected for several weeks [O'Brien et al., 2005; de Lahunta et al., 2021].\"","defect":true,"group_name":"Multiple system degeneration, SERAC1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Canine multiple system degeneration; striatonigral and cerebello-olivary degeneration; hereditary cerebellar neuronal abiotrophy","omia_group_id":1468,"omia_phene_id":2891,"omia_record_id":"OMIA:001468-9615","publication_ids":[6166,6167,8160,9228,108583,123094,123095,125285,125286,125287,125288,125289,128324,128962,133144],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2891","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Brussels Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200241"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Coton de Tulear (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200389"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Maltese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200856"},{"name":"Papillon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200985"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Meningoencephalitis","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"includes necrotizing/necrotising meningoencephalitis, Pug dog myelopathy (PDM), Pug dog encephalitis (PDE); spinal only meningoencephalomyelitis of unknown origin","omia_group_id":1470,"omia_phene_id":2896,"omia_record_id":"OMIA:001470-9615","publication_ids":[108694,108695,108696,108697,108698,108699,108700,108701,108702,110332,110333,110334,110335,110523,115404,123841,123842,123843,124762,126229,127479,127482,127483,127855,128809,129690,133535],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2896","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"}],"characterised":true,"characterised_year":2008,"clinical_features":"Affected puppies are small at birth and do not develop normally.  They initially nurse poorly, but begin nursing sufficiently after several days (Chen et al., 2008). At approximately 3 weeks of age, weakness, ataxia, whole-body tremors, wide-based stance with increased extensor tone, and axial muscle weakness with neck ventroflexion is observed. Affected pups do not interact with the dam or littermates and have slow responses to external stimuli (Chen et al., 2008). At approximately 3 to 6 weeks of age, affected puppies develop generalized clonic-tonic seizures that quickly become refractory to treatment. They become laterally recumbent with extensor rigidity and opisthotonus, and usually die or are euthanized before 7 weeks of age (Chen et al., 2008; Yu et al. 2020).","defect":true,"group_name":"Neonatal encephalopathy with seizures, ATF2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1471,"omia_phene_id":2900,"omia_record_id":"OMIA:001471-9615","publication_ids":[108763,123299,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2900","source_release":"retrieved-2026-09-12","summary":"The disorder is characterized by pups that are small at birth, fail to nurse or thrive, then develop neurological signs and usually die by 7 weeks of age. A genetic test is available.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"}],"characterised":true,"characterised_year":2006,"clinical_features":"Progressive loss of vision under dim light begins in affected dogs at 6-7 months of age (Sanders et al., 2011). Unilaterally decreased menace response begins at 8 months of age, followed by intention and resting tremors of the head, and myoclonus. Cerebellar ataxia (dysmetria, incoordination) began at 9-10 months of age. Other neurological signs include altered cognitive function, motor dysfunction, and myoclonus. Tests of cognitive ability were significantly different from normal dogs at 6 months of age (Sanders et al., 2011). Other signs reported include seizures, hyperactivity, howling, aggressive behavior, hypermetria, circling, and diarrhea (Awano et al., 2006). No effective treatment has been identified, and affected dogs die by 12 months of age (Awano et al., 2006). Intrathecal administration of TPP1 caused a robust immune response and did not improve the overall function of treated dogs (Vuillemenot et al., 2011).","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 2","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008769","iri":"http://purl.obolibrary.org/obo/MONDO_0008769","label":"neuronal ceroid lipofuscinosis 2"}],"name":"","omia_group_id":1472,"omia_phene_id":2901,"omia_record_id":"OMIA:001472-9615","publication_ids":[107931,110463,110464,113540,114717,115072,115883,116006,116298,116880,116994,117014,117387,117735,120540,120830,122714,123943,128324,129317,129318,129319,129320,129322,129324,129325,129327],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2901","source_release":"retrieved-2026-09-12","summary":"The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules, early neuronal death, and progressive neurodegeneration of the central nervous system. NCL2 is an early-onset disease of miniature long-haired dachshunds. Early signs include progressive loss of vision under dim light, decreased menace response, tremors of the head, myoclonus, and cerebellar ataxia. Signs appear in young dogs and progress rapidly, with death by 12 months of age., as no effective treatment has been identified. The mode of inheritance is autosomal recessive. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT Kick et al. (2023) \"A study using the dog model was performed to evaluate the efficacy of ocular gene therapy to provide a continuous, long-term source of human TPP1 (hTPP1) to the retina, inhibit retinal degeneration and preserve retinal function. ... Intravitreal administration of AAV2.CAG.hTPP1 resulted in stable, widespread expression of hTPP1 throughout the inner retina, prevented disease-related declines in retinal function and inhibited disease-related cell loss and storage body accumulation in the retina for at least 6 months. Uveitis occurred in eyes treated with the hTPP1 vector, but this did not prevent therapeutic efficacy.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Afghan Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200004"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"}],"characterised":true,"characterised_year":2006,"clinical_features":"","defect":false,"group_name":"Hair, long","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008593","iri":"http://purl.obolibrary.org/obo/MONDO_0008593","label":"trichomegaly"}],"name":"","omia_group_id":439,"omia_phene_id":2904,"omia_record_id":"OMIA:000439-9615","publication_ids":[213,108432,108791,108792,111133,113549,117501,120501,121972,125653,125980,130599,130739,132664,132665],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2904","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Persistent truncus arteriosus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":795,"omia_phene_id":2905,"omia_record_id":"OMIA:000795-9615","publication_ids":[108798,111590],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2905","source_release":"retrieved-2026-09-12","summary":"The first report of this disorder in dogs was by Serres et al. (2009)","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Rupture of the cranial cruciate ligament, predisposition to","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Wilke et al. (2006) showed that this disorder is heritable, but the form of inheritance remains to be determined.\r\nGWAS conducted by Baker et al. (2017) and Hayward et al. (2019) established the multifactorial nature of this disorder, with numerous QTL reported.","mondo_terms":[],"name":"cranial cruciate ligament rupture; CCL disease; anterior cruciate ligament rupture; cranial cruciate ligament disease; cruciate disease","omia_group_id":1474,"omia_phene_id":2906,"omia_record_id":"OMIA:001474-9615","publication_ids":[108495,108802,108803,108943,114091,117627,117723,118049,119932,120857,121417,122033,122132,122188,122606,123082,123083,123307,123308,123938,124074,124533,124543,124869,125025,125407,125436,125731,126183,126184,127114,128360,128509,129101,129516,130453,130538,130758,132127,132133,133467],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2906","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Hepatitis, copper-associated chronic (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Information previously presented here has been merged with 'OMIA 001071-9615 : Wilson disease in Canis lupus familiaris' [10/01/2023]","omia_group_id":1475,"omia_phene_id":2909,"omia_record_id":"OMIA:001475-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2909","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"}],"characterised":true,"characterised_year":2009,"clinical_features":"Clinical features include reduced agility, pain, spontaneous and intrauterine bone and teeth fractures, joint hyperlaxity, brittle, thin-walled primary teeth, and reduced bone density on radiography (Seeliger et al., 2003). Low bone mass and reduced bone strength leading to bone fragility and deformity can be observed (Lindert et al., 2015). other clinical signs include blue-grey sclera, progressive hearing loss, dwarfism, and other developmental complications (Drögemüller et al., 2009). Stillbirths have been reported to occur as part of this condition (Schütz et al., 2013). [IT thanks DVM student Carol Bency, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Osteogenesis imperfecta, SERPINH1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013459","iri":"http://purl.obolibrary.org/obo/MONDO_0013459","label":"osteogenesis imperfecta type 10"}],"name":"Brittle bone disease","omia_group_id":1483,"omia_phene_id":2922,"omia_record_id":"OMIA:001483-9615","publication_ids":[108987,113478,113479,113480,113481,113626,114191,116046,116047],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2922","source_release":"retrieved-2026-09-12","summary":"Several forms of osteogenesis imperfecta have been identified so far in dogs. See also 'OMIA000754-9615 Osteogenesis imperfecta, generic', 'OMIA002126-9615 Osteogenesis imperfecta, type III, COL1A1-related'  and 'OMIA 002112-9615 Osteogenesis imperfecta, COL1A2-related'","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"}],"characterised":true,"characterised_year":2009,"clinical_features":"","defect":true,"group_name":"Vitamin D-deficiency rickets, type II","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0019642","iri":"http://purl.obolibrary.org/obo/MONDO_0019642","label":"vitamin D-dependent rickets, type 2"}],"name":"","omia_group_id":1431,"omia_phene_id":2926,"omia_record_id":"OMIA:001431-9615","publication_ids":[108962,121864],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2926","source_release":"retrieved-2026-09-12","summary":"Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"}],"characterised":true,"characterised_year":2023,"clinical_features":"Rhodin et al. (2023) investigated related pugs from 2 litters: \"Three pugs had clinical signs including, lameness, bone deformities, and dyspnea. One other pug was found dead. Radiographs of 2 affected pugs, 5 and 6 months old, showed generalized widening, and irregular margination of the physes of both the appendicular and the axial skeleton with generalized decrease in bone opacity and bulbous swelling of the costochondral junctions. Two pugs had low serum calcium and 1,25 (OH)2D3 concentrations. Test results further indicated secondary hyperparathyroidism with adequate concentrations of 25-hydroxyvitamin D.\"","defect":true,"group_name":"Vitamin D-deficiency rickets, type IA","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0020723","iri":"http://purl.obolibrary.org/obo/MONDO_0020723","label":"vitamin D-dependent rickets, type 1A"}],"name":"","omia_group_id":837,"omia_phene_id":2927,"omia_record_id":"OMIA:000837-9615","publication_ids":[108963,121864,125192],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2927","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myopia","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"In an investigation of the heritability of lenticular myopia in English Springer Spaniels, Kubai et al. (2013) reported \"Moderate heritability was present for refractive error with a mean value of 0.29 (95% highest probability density: 0.07 to 0.50)\".","mondo_terms":[],"name":"","omia_group_id":1487,"omia_phene_id":2932,"omia_record_id":"OMIA:001487-9615","publication_ids":[109003,109004,114992,114993,114994,126346,130559],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2932","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2010,"clinical_features":"","defect":false,"group_name":"Coat colour, grizzle","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"Dürig et al. (2018) proposed naming the grizzle allele as E^G","mondo_terms":[],"name":"Known as domino in Afghan Hounds","omia_group_id":1495,"omia_phene_id":2957,"omia_record_id":"OMIA:001495-9615","publication_ids":[109139,118064,122792,123315,124017,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2957","source_release":"retrieved-2026-09-12","summary":"See also: <a href=\"../../../../../../OMIA001199/9615/\">OMIA:001199-9615</a> : Coat colour, extension in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"}],"characterised":true,"characterised_year":2010,"clinical_features":"","defect":false,"group_name":"Improper coat","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1498,"omia_phene_id":2961,"omia_record_id":"OMIA:001498-9615","publication_ids":[109183,117501],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2961","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Aggression","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1499,"omia_phene_id":2962,"omia_record_id":"OMIA:001499-9615","publication_ids":[109186],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2962","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Anal sac gland carcinoma","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1500,"omia_phene_id":2965,"omia_record_id":"OMIA:001500-9615","publication_ids":[109211],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2965","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"}],"characterised":true,"characterised_year":2010,"clinical_features":"Signs include late onset and slowly progressive behavioral changes, cognitive and motor degeneration, ataxia, seizures, and premature death. Kick et al. (2025) report retinal function deficits in affected American Staffordshire Terriers.","defect":true,"group_name":"Lysosomal storage disease, ARSG related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Cerebellar cortical abiotrophy, cerebellar cortical degeneration, neuronal ceroid lipofuscinosis","omia_group_id":1503,"omia_phene_id":2973,"omia_record_id":"OMIA:001503-9615","publication_ids":[106513,107356,107467,109281,110465,113540,114989,117239,117735,120540,121013,121140,121141,121142,125231,125285,128324,131151,133124],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2973","source_release":"retrieved-2026-09-12","summary":"Dogs with this lysosomal storage disorder have late-onset and slowly progressive behavioral changes, cognitive and motor degeneration, ataxia, seizures, and premature death.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Italian Cane Corso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200712"}],"characterised":true,"characterised_year":2010,"clinical_features":"Diffuse retinal thinning and severe retinal vessel degeneration were present at 7 months of age, followed by complete blindness at 8 months of age (Sanders et al., 2010). Additional signs appeared at nine months of age, including disorientation, ataxia, weakness, visual impairment, and behavioral changes. These progressed to kyphosis and stiffness in gait, uncontrolled rhythmic head movements, inability to recognize the owner, severe vision loss, sensitivity to loud noise, inappropriate vocalization, circling, loss of coordination and general weakness. There is no effective treatment.","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009744","iri":"http://purl.obolibrary.org/obo/MONDO_0009744","label":"neuronal ceroid lipofuscinosis 1"}],"name":"","omia_group_id":1504,"omia_phene_id":2974,"omia_record_id":"OMIA:001504-9615","publication_ids":[109282,110465,113540,117448,117735,120540,122714,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2974","source_release":"retrieved-2026-09-12","summary":"The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules, early neuronal death, and progressive neurodegeneration of the central nervous system. NCL1 is a rare disorder of dachshunds caused by severely deficient palmitoyl protein thioesterase (PPT1) activity. Signs appear as early as nine months of age, and include behavioral changes, nervousness, disorientation, ataxia, weakness, kyphosis, stiffness of gait, uncontrolled rhythmic head movements, and visual impairment. Fundic examination may show diffuse retinal thinning and retinal vessel degeneration. The mode of inheritance is autosomal recessive. There is no effective treatment. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[{"id":"HP:0000505","iri":"http://purl.obolibrary.org/obo/HP_0000505","label":"Visual impairment"},{"id":"HP:0000505","iri":"http://purl.obolibrary.org/obo/HP_0000505","label":"Visual impairment"},{"id":"HP:0000529","iri":"http://purl.obolibrary.org/obo/HP_0000529","label":"Progressive visual loss"},{"id":"HP:0000618","iri":"http://purl.obolibrary.org/obo/HP_0000618","label":"Blindness"},{"id":"HP:0000728","iri":"http://purl.obolibrary.org/obo/HP_0000728","label":"Reduced ability to form peer relationships"},{"id":"HP:0000739","iri":"http://purl.obolibrary.org/obo/HP_0000739","label":"Anxiety"},{"id":"HP:0001251","iri":"http://purl.obolibrary.org/obo/HP_0001251","label":"Ataxia"},{"id":"HP:0001337","iri":"http://purl.obolibrary.org/obo/HP_0001337","label":"Tremor"},{"id":"HP:0002311","iri":"http://purl.obolibrary.org/obo/HP_0002311","label":"Incoordination"},{"id":"HP:0002457","iri":"http://purl.obolibrary.org/obo/HP_0002457","label":"Abnormal head movements"},{"id":"HP:0002509","iri":"http://purl.obolibrary.org/obo/HP_0002509","label":"Limb hypertonia"},{"id":"HP:0003204","iri":"http://purl.obolibrary.org/obo/HP_0003204","label":"Intracellular accumulation of autofluorescent lipopigment storage material"},{"id":"HP:0003204","iri":"http://purl.obolibrary.org/obo/HP_0003204","label":"Intracellular accumulation of autofluorescent lipopigment storage material"},{"id":"HP:0003324","iri":"http://purl.obolibrary.org/obo/HP_0003324","label":"Generalized muscle weakness"},{"id":"HP:0003551","iri":"http://purl.obolibrary.org/obo/HP_0003551","label":"Difficulty climbing stairs"},{"id":"HP:0008046","iri":"http://purl.obolibrary.org/obo/HP_0008046","label":"Abnormal retinal vascular morphology"},{"id":"HP:0030329","iri":"http://purl.obolibrary.org/obo/HP_0030329","label":"Retinal thinning on OCT"},{"id":"HP:0033044","iri":"http://purl.obolibrary.org/obo/HP_0033044","label":"Motor regression"},{"id":"HP:0033329","iri":"http://purl.obolibrary.org/obo/HP_0033329","label":"Abnormal postural reflex"},{"id":"HP:0034332","iri":"http://purl.obolibrary.org/obo/HP_0034332","label":"Cognitive regression"},{"id":"MP:0000160","iri":"http://purl.obolibrary.org/obo/MP_0000160","label":"kyphosis"},{"id":"MP:0000436","iri":"http://purl.obolibrary.org/obo/MP_0000436","label":"abnormal head movements"},{"id":"MP:0000746","iri":"http://purl.obolibrary.org/obo/MP_0000746","label":"weakness"},{"id":"MP:0001393","iri":"http://purl.obolibrary.org/obo/MP_0001393","label":"ataxia"},{"id":"MP:0001393","iri":"http://purl.obolibrary.org/obo/MP_0001393","label":"ataxia"},{"id":"MP:0001411","iri":"http://purl.obolibrary.org/obo/MP_0001411","label":"spinning"},{"id":"MP:0001524","iri":"http://purl.obolibrary.org/obo/MP_0001524","label":"impaired limb coordination"},{"id":"MP:0002001","iri":"http://purl.obolibrary.org/obo/MP_0002001","label":"blindness"},{"id":"MP:0002001","iri":"http://purl.obolibrary.org/obo/MP_0002001","label":"blindness"},{"id":"MP:0002063","iri":"http://purl.obolibrary.org/obo/MP_0002063","label":"abnormal learning/memory/conditioning"},{"id":"MP:0002090","iri":"http://purl.obolibrary.org/obo/MP_0002090","label":"abnormal vision"},{"id":"MP:0002090","iri":"http://purl.obolibrary.org/obo/MP_0002090","label":"abnormal vision"},{"id":"MP:0002557","iri":"http://purl.obolibrary.org/obo/MP_0002557","label":"abnormal social/conspecific interaction behavior"},{"id":"MP:0002792","iri":"http://purl.obolibrary.org/obo/MP_0002792","label":"abnormal retina vasculature morphology"},{"id":"MP:0002980","iri":"http://purl.obolibrary.org/obo/MP_0002980","label":"abnormal postural reflex"},{"id":"MP:0003314","iri":"http://purl.obolibrary.org/obo/MP_0003314","label":"dysmetria"},{"id":"MP:0003354","iri":"http://purl.obolibrary.org/obo/MP_0003354","label":"astrocytosis"},{"id":"MP:0005059","iri":"http://purl.obolibrary.org/obo/MP_0005059","label":"lysosomal protein accumulation"},{"id":"MP:0005059","iri":"http://purl.obolibrary.org/obo/MP_0005059","label":"lysosomal protein accumulation"},{"id":"MP:0005191","iri":"http://purl.obolibrary.org/obo/MP_0005191","label":"head tilt"},{"id":"MP:0005202","iri":"http://purl.obolibrary.org/obo/MP_0005202","label":"lethargy"},{"id":"MP:0005254","iri":"http://purl.obolibrary.org/obo/MP_0005254","label":"strabismus"},{"id":"MP:0006099","iri":"http://purl.obolibrary.org/obo/MP_0006099","label":"thin cerebellar granule layer"},{"id":"MP:0008912","iri":"http://purl.obolibrary.org/obo/MP_0008912","label":"nervous"},{"id":"MP:0008913","iri":"http://purl.obolibrary.org/obo/MP_0008913","label":"weaving"},{"id":"MP:0011965","iri":"http://purl.obolibrary.org/obo/MP_0011965","label":"decreased total retina thickness"},{"id":"MP:0012053","iri":"http://purl.obolibrary.org/obo/MP_0012053","label":"limb hypertonicity"},{"id":"MP:0013140","iri":"http://purl.obolibrary.org/obo/MP_0013140","label":"excessive vocalization"},{"id":"MP:0020222","iri":"http://purl.obolibrary.org/obo/MP_0020222","label":"abnormal alertness"},{"id":"MP:0021112","iri":"http://purl.obolibrary.org/obo/MP_0021112","label":"impaired social recognition"},{"id":"UPHENO:0019200","iri":"http://purl.obolibrary.org/obo/UPHENO_0019200","label":"arrested detection of light stimulus involved in visual perception"},{"id":"UPHENO:0052843","iri":"http://purl.obolibrary.org/obo/UPHENO_0052843","label":"decreased qualitatively memory"},{"id":"UPHENO:0080275","iri":"http://purl.obolibrary.org/obo/UPHENO_0080275","label":"decreased motor coordination"},{"id":"UPHENO:0080275","iri":"http://purl.obolibrary.org/obo/UPHENO_0080275","label":"decreased motor coordination"},{"id":"UPHENO:0080287","iri":"http://purl.obolibrary.org/obo/UPHENO_0080287","label":"decreased bonding behavior"},{"id":"UPHENO:0080789","iri":"http://purl.obolibrary.org/obo/UPHENO_0080789","label":"decreased thickness of the granular layer of cerebellar cortex"},{"id":"UPHENO:0083866","iri":"http://purl.obolibrary.org/obo/UPHENO_0083866","label":"increased protein localization in lysosome"},{"id":"UPHENO:0083866","iri":"http://purl.obolibrary.org/obo/UPHENO_0083866","label":"increased protein localization in lysosome"},{"id":"UPHENO:0087970","iri":"http://purl.obolibrary.org/obo/UPHENO_0087970","label":"retina blood vessel morphology phenotype"}]}
{"breeds":[{"name":"American Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200034"}],"characterised":true,"characterised_year":2006,"clinical_features":"Onset of signs is usually before 2 years of age and includes hypermetria, dysmetria, paraparesis, ataxia, and progressive psychomotor degeneration. Signs progress slowly, with death by 7 years of age (Awano et al., 2006).Unlike many other NCLs, American bulldogs with NCL10 do not show signs of cerebral dysfunction or blindness (Evans et al, 2005).  ","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 10","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012414","iri":"http://purl.obolibrary.org/obo/MONDO_0012414","label":"neuronal ceroid lipofuscinosis 10"}],"name":"","omia_group_id":1505,"omia_phene_id":2975,"omia_record_id":"OMIA:001505-9615","publication_ids":[107305,107883,109283,113540,117735,120540,122714,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2975","source_release":"retrieved-2026-09-12","summary":"The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules and early neuronal death. Onset is usually before 2 years of age, with death by 7 years of age. Unlike other forms of NCL, dogs with NCL10 do not show signs of cerebral dysfunction or blindness. A genetic test is available.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2005,"clinical_features":"Dogs present at 18-24 months of age with progressive behavioral changes, hyperactivity, dementia, aggression, loss of coordination, ataxia, delayed postural responses, blindness, and slow pupillary light responses (Taylor et al., 1988, Melville et al., 2005). Blind affected dogs have normal retinal structure on fundic and light microscopic examination, but have severe ultrastructural lesions (Taylor et al., 1988). Changes observed by MRI include slightly dilated cerebral sulci and cerebellar fissures, and left ventricular enlargement (Koie et al., 2004).","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 5","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009745","iri":"http://purl.obolibrary.org/obo/MONDO_0009745","label":"neuronal ceroid lipofuscinosis 5"}],"name":"","omia_group_id":1482,"omia_phene_id":2976,"omia_record_id":"OMIA:001482-9615","publication_ids":[25710,28321,87466,107328,107473,110627,110628,112463,113540,113597,116005,116672,116840,117735,119205,120540,121266,121401,121887,122714,123544,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2976","source_release":"retrieved-2026-09-12","summary":"The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules and early neuronal death. Affected Border collies present at 18-24 months of age. There is a genetic test available.","taxon_id":9615,"upheno_terms":[{"id":"HP:0000713","iri":"http://purl.obolibrary.org/obo/HP_0000713","label":"Agitation"},{"id":"HP:0000718","iri":"http://purl.obolibrary.org/obo/HP_0000718","label":"Aggressive behavior"},{"id":"HP:0000722","iri":"http://purl.obolibrary.org/obo/HP_0000722","label":"Compulsive behaviors"},{"id":"HP:0000733","iri":"http://purl.obolibrary.org/obo/HP_0000733","label":"Motor stereotypy"},{"id":"HP:0000739","iri":"http://purl.obolibrary.org/obo/HP_0000739","label":"Anxiety"},{"id":"HP:0001272","iri":"http://purl.obolibrary.org/obo/HP_0001272","label":"Cerebellar atrophy"},{"id":"HP:0002069","iri":"http://purl.obolibrary.org/obo/HP_0002069","label":"Bilateral tonic-clonic seizure"},{"id":"HP:0002119","iri":"http://purl.obolibrary.org/obo/HP_0002119","label":"Ventriculomegaly"},{"id":"HP:0002283","iri":"http://purl.obolibrary.org/obo/HP_0002283","label":"Global brain atrophy"},{"id":"HP:0002311","iri":"http://purl.obolibrary.org/obo/HP_0002311","label":"Incoordination"},{"id":"HP:0002312","iri":"http://purl.obolibrary.org/obo/HP_0002312","label":"Clumsiness"},{"id":"HP:0007015","iri":"http://purl.obolibrary.org/obo/HP_0007015","label":"Poor gross motor coordination"},{"id":"HP:0007359","iri":"http://purl.obolibrary.org/obo/HP_0007359","label":"Focal-onset seizure"},{"id":"HP:0010544","iri":"http://purl.obolibrary.org/obo/HP_0010544","label":"Vertical nystagmus"},{"id":"HP:0011512","iri":"http://purl.obolibrary.org/obo/HP_0011512","label":"Hyperpigmentation of the fundus"},{"id":"HP:0033044","iri":"http://purl.obolibrary.org/obo/HP_0033044","label":"Motor regression"},{"id":"HP:0034332","iri":"http://purl.obolibrary.org/obo/HP_0034332","label":"Cognitive regression"},{"id":"HP:0100754","iri":"http://purl.obolibrary.org/obo/HP_0100754","label":"Mania"},{"id":"MP:0001263","iri":"http://purl.obolibrary.org/obo/MP_0001263","label":"weight loss"},{"id":"MP:0001357","iri":"http://purl.obolibrary.org/obo/MP_0001357","label":"increased aggression towards humans"},{"id":"MP:0001358","iri":"http://purl.obolibrary.org/obo/MP_0001358","label":"aggression towards inanimate objects"},{"id":"MP:0001363","iri":"http://purl.obolibrary.org/obo/MP_0001363","label":"increased anxiety-related response"},{"id":"MP:0001393","iri":"http://purl.obolibrary.org/obo/MP_0001393","label":"ataxia"},{"id":"MP:0001411","iri":"http://purl.obolibrary.org/obo/MP_0001411","label":"spinning"},{"id":"MP:0001524","iri":"http://purl.obolibrary.org/obo/MP_0001524","label":"impaired limb coordination"},{"id":"MP:0002001","iri":"http://purl.obolibrary.org/obo/MP_0002001","label":"blindness"},{"id":"MP:0002063","iri":"http://purl.obolibrary.org/obo/MP_0002063","label":"abnormal learning/memory/conditioning"},{"id":"MP:0002064","iri":"http://purl.obolibrary.org/obo/MP_0002064","label":"seizures"},{"id":"MP:0002065","iri":"http://purl.obolibrary.org/obo/MP_0002065","label":"abnormal fear/anxiety-related behavior"},{"id":"MP:0003158","iri":"http://purl.obolibrary.org/obo/MP_0003158","label":"dysphagia"},{"id":"MP:0003997","iri":"http://purl.obolibrary.org/obo/MP_0003997","label":"tonic-clonic seizures"},{"id":"MP:0005254","iri":"http://purl.obolibrary.org/obo/MP_0005254","label":"strabismus"},{"id":"MP:0005655","iri":"http://purl.obolibrary.org/obo/MP_0005655","label":"increased aggression"},{"id":"MP:0012676","iri":"http://purl.obolibrary.org/obo/MP_0012676","label":"dilated brain ventricle"},{"id":"MP:0013140","iri":"http://purl.obolibrary.org/obo/MP_0013140","label":"excessive vocalization"},{"id":"MP:0014120","iri":"http://purl.obolibrary.org/obo/MP_0014120","label":"focal seizures"},{"id":"UPHENO:0013942","iri":"http://purl.obolibrary.org/obo/UPHENO_0013942","label":"cerebellum atrophy"},{"id":"UPHENO:0014053","iri":"http://purl.obolibrary.org/obo/UPHENO_0014053","label":"brain atrophy"},{"id":"UPHENO:0019200","iri":"http://purl.obolibrary.org/obo/UPHENO_0019200","label":"arrested detection of light stimulus involved in visual perception"},{"id":"UPHENO:0052843","iri":"http://purl.obolibrary.org/obo/UPHENO_0052843","label":"decreased qualitatively memory"},{"id":"UPHENO:0074655","iri":"http://purl.obolibrary.org/obo/UPHENO_0074655","label":"increased pigmentation in ocular fundus"},{"id":"UPHENO:0080262","iri":"http://purl.obolibrary.org/obo/UPHENO_0080262","label":"decreased swallowing"},{"id":"UPHENO:0080275","iri":"http://purl.obolibrary.org/obo/UPHENO_0080275","label":"decreased motor coordination"},{"id":"UPHENO:0082797","iri":"http://purl.obolibrary.org/obo/UPHENO_0082797","label":"increased anxiety-related behavior"},{"id":"UPHENO:0082809","iri":"http://purl.obolibrary.org/obo/UPHENO_0082809","label":"increased aggressive behavior towards humans"},{"id":"UPHENO:0084151","iri":"http://purl.obolibrary.org/obo/UPHENO_0084151","label":"dilated brain ventricle"}]}
{"breeds":[{"name":"Alpine Dachsbracke (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200023"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"English Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200495"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Saluki (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201171"}],"characterised":true,"characterised_year":2005,"clinical_features":"Koppang (1992) and Guo et al. (2014) describe the disease in English Setter and Australian Shepherd dogs: From birth to 12-14 months of age, the dog presents as healthy. At 14-18 months, visual impairment and behavioural changes indicative of neurological degeneration, such as decreased responsiveness to voice commands and compulsive circling, develop. These symptoms worsen, leading to blindness, ataxia and eventual loss of motor function in the limbs. Seizures develop at 17-24 months, becoming more frequent and severe until death or euthanasia of the animal which usually occurs before the age of 27 months. IT thanks DVM student Steven Serb, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 8","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010830","iri":"http://purl.obolibrary.org/obo/MONDO_0010830","label":"neuronal ceroid lipofuscinosis 8"}],"name":"","omia_group_id":1506,"omia_phene_id":2977,"omia_record_id":"OMIA:001506-9615","publication_ids":[317,15342,27388,27943,47106,49025,59270,59317,59427,81229,82290,83947,107454,111403,111404,111405,111406,112960,112961,113540,114718,114719,114720,114721,114722,114723,114724,114725,115710,117447,117735,117896,120432,120540,122714,125653,128324,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2977","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Incomplete ossification of the humeral condyle","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1507,"omia_phene_id":2978,"omia_record_id":"OMIA:001507-9615","publication_ids":[109284,109285,109286,109287],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2978","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boykin Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200214"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2010,"clinical_features":"","defect":true,"group_name":"Myotubular myopathy 1","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"Beggs et al. (2010) presented pedigree information that was inconsistent with autosomal recessive inheritance but consistent with X-linked recessive inheritance.","mondo_terms":[{"id":"MONDO:0010683","iri":"http://purl.obolibrary.org/obo/MONDO_0010683","label":"X-linked centronuclear myopathy"}],"name":"","omia_group_id":1508,"omia_phene_id":2979,"omia_record_id":"OMIA:001508-9615","publication_ids":[109289,109297,113208,115869,116286,116878,116879,117515,122449,123347,124970,124971,131008],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2979","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"}],"characterised":true,"characterised_year":2010,"clinical_features":"As reported by Bader et al. (2010), this disorder \"is characterized by short stature, thick, taut skin, and severely restricted joint mobility . . . Affected dogs also have broad skulls with wide-set slanted eyes, creased ears, a hopping, “tip-toe” gait, and pleasant temperaments.\" Additionally, cardiac disease has been reported as possibly associated with Muscladin-Lueke syndrome, but reports are inconsistent (Packer et al., 2017). [IT thanks DVM student Elizabeth Polley for contributions to this entry in April 2022]","defect":true,"group_name":"Geleophysic dysplasia, ADMATSL2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Musladin-Lueke syndrome, Chinese beagle syndrome","omia_group_id":1509,"omia_phene_id":2980,"omia_record_id":"OMIA:001509-9615","publication_ids":[109298,113146,113147,123125,123369,132991],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2980","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":true,"characterised_year":2015,"clinical_features":"Invasive transitional cell carcinoma usually manifests as a chronic urinary tract infection. The clinical signs are non-specific and include pollakiuria, haematuria, and stranguria commonly in association with other conditions such as urinary tract infection, bladder stones, benign polyps, and cystitis (Thomas et al., 2023). ITCC is usually diagnosed at an advanced stage (invasion of the detrusor muscle), where dogs may experience anuria (mass obstruction/urethral extension) (Thomas et al., 2023). Additionally, survival time can be less than 12 months from the time of diagnosis (Thomas et al., 2023). Gold standard for diagnosis is histopathologic evaluation of tissue biopsies (Thomas et al., 2023). Investigation of associated genes is possible (BRAF V595E + MAP2K1 ) from a urine sample with (droplet digital) PCR, however a negative result does not rule out ITCC (Thomas et al., 2023). IT thanks DVM student Tori Stragliotto, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Transitional cell carcinoma","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"Invasive transitional cell carcinoma of the bladder; Canine InvTCC; urothelial carcinomas; transitional cell carcinoma; TCC; invasive urinary carcinoma; iUC","omia_group_id":1512,"omia_phene_id":2984,"omia_record_id":"OMIA:001512-9615","publication_ids":[109310,109311,109312,109313,115936,120065,122416,123115,123950,123951,123952,124660,125612,125897,126489,126490,126609,127380,128003,128157,128158,128159,128361,129895,129909,130057,130140,130300,130633,132374,132545,132565,132607,132872,132947,133442,133556],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2984","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2008,"clinical_features":"","defect":true,"group_name":"Leukaemia, chronic myelogenous","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1513,"omia_phene_id":2985,"omia_record_id":"OMIA:001513-9615","publication_ids":[109325,109326,109327],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2985","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2014,"clinical_features":"Affected animals present with generalised tremors at about 2 to 3 weeks of age (Kornegay et al., 1987; Pemberton et al., 2014). Clinical signs gradually resolve in most dogs by 3 to 4 months of age (Kornegay et al., 1987; Pemberton et al., 2014), \"though some dogs retained a persistent fine tremor of the hind limbs\" (Pemberton et al., 2014). Pemberton et al. (2014) suggest that hyppomyelination previously described in Chow Chow dogs (Vandevelde and Braund, 1981; Vandevelde et al., 1978) is identical to the disease in Weimaraner dogs.","defect":true,"group_name":"Hypomyelination of the central nervous system","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":526,"omia_phene_id":2986,"omia_record_id":"OMIA:000526-9615","publication_ids":[109340,109341,115278,115279,115280,115281,125209,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2986","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200494"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"French Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200548"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Miniature Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200893"}],"characterised":true,"characterised_year":2016,"clinical_features":"As summarised by Plassais et al. (2016): \" Clinical signs appear in young puppies and consist of acral analgesia, with or without sudden intense licking, biting and severe self-mutilation of the feet, whereas proprioception, motor abilities and spinal reflexes remain intact\"","defect":true,"group_name":"Acral mutilation syndrome","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Correard et al. (2017): \"a large pedigree of French spaniels was first drafted; careful analysis of this pedigree revealed a recessive autosomal mode of inheritance, as previously described (Paradis et al. 2005)\"","mondo_terms":[],"name":"hereditary sensory neuropathy","omia_group_id":1514,"omia_phene_id":2987,"omia_record_id":"OMIA:001514-9615","publication_ids":[109342,109343,109344,109345,117440,117442,117443,117444,118991,118993,123125,125653,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2987","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Goldendoodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200611"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"}],"characterised":true,"characterised_year":2011,"clinical_features":"","defect":true,"group_name":"Colorectal hamartomatous polyposis and ganglioneuromatosis","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1515,"omia_phene_id":2988,"omia_record_id":"OMIA:001515-9615","publication_ids":[109346,125864],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2988","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2010,"clinical_features":"","defect":true,"group_name":"Gastrointestinal stromal tumour","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"GIST","omia_group_id":1516,"omia_phene_id":2989,"omia_record_id":"OMIA:001516-9615","publication_ids":[109347,116728,125139,125140,125141,130016],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2989","source_release":"retrieved-2026-09-12","summary":"IT IS IMPORTANT TO NOTE THAT THESE ARE UNDERSTOOD TO BE A SOMATIC MUTATIONS, WHICH MEANS THAT THE VARIANTS ARE NOT INHERITED AND WILL NOT BE PASSED ON TO OFFSPRING.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal dystrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":869,"omia_phene_id":2990,"omia_record_id":"OMIA:000869-9615","publication_ids":[109350],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2990","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, X-linked, type 3","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1517,"omia_phene_id":2991,"omia_record_id":"OMIA:001517-9615","publication_ids":[109354,122866],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2991","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2002,"clinical_features":"Beltran et al. (2006): \"Abnormal development of photoreceptors was recognizable as early as 3.9 weeks of age. Outer segment (OS) misalignment was followed by their disorganization and fragmentation. Reduction in length and broadening of rod and cone inner segments (IS) was next observed, followed by the focal loss of rod and cone IS at later time points. The proportion of dying photoreceptors peaked at approximately 6 to 7 weeks of age and was significantly reduced after 12 weeks. In addition to rod and cone opsin mislocalization, there was early rod neurite sprouting, retraction of rod bipolar cell dendrites, and increased Müller cell reactivity. Later in the course of the disease, changes were also noted in horizontal cells and amacrine cells.\" As summarised by these authors: \"XLPRA2 is an early-onset model of XLRP that is morphologically characterized by abnormal photoreceptor maturation followed by progressive rod-cone degeneration and early inner retina remodeling. \"","defect":true,"group_name":"Retinal atrophy, progressive, X-linked, type 2","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1518,"omia_phene_id":2992,"omia_record_id":"OMIA:001518-9615","publication_ids":[108327,109374,109375,111395,112004,112345,115338,115539,119960,120378,120497,120515,122027,122028,122029,122030,122031,122208,123561,124948,126631,126774,129012,129719,129760,129973,132320],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2992","source_release":"retrieved-2026-09-12","summary":"The difference between XLPRA1 (<a href=\"../../../../../../OMIA000831/9615/\">OMIA:000831-9615</a>) and XLPRA2 (this entry) is summarised by Appelbaum et al. (2020) as \"XLPRA1-affected dogs have normal PR morphogenesis, after which progressive rod–cone degeneration develops in the peripheral retina, gradually advancing toward the optic disc. . . . The phenotype associated with XLPRA2 is very severe and manifests during early retinal development.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Persistent hyaloid remnants","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Persistent hyaloid artery (PHA)","omia_group_id":1519,"omia_phene_id":2993,"omia_record_id":"OMIA:001519-9615","publication_ids":[109355,125219],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2993","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists (2021): \"congenital defect resulting from abnormalities in the development and regression of the hyaloid artery. The blood vessel remnant can be present in the vitreous as a small patent vascular strand (PHA) or as a non-vascular strand that appears gray-white (persistent hyaloid remnant)\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Glen of Imaal Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200609"}],"characterised":true,"characterised_year":2010,"clinical_features":"Onset of disease has been reported on average at 6 years of age (Kropatsch et al., 2010). Affected dogs develop visual problems (difficulties avoiding obstacles in dim light) and the disease gradually results in total blindness (Goldstein et al., 2010). However, ophthalmoscopical changes can be observed in dogs as young as 3 years of age and can present either as \"subtle but generalized hyperreflectivity of the tapetal fundus, and retinal vascular attenuation\" or \"as a discrete, distinctly hyperreflective lesion, with no accompanying ophthalmoscopic evidence of generalized retinal disease\" (Goldstein et al., 2010). The electroretinogram (ERG) was normal in a 12-weeks-old affected dog. ERG dysfunction was detected at 15 month of age. As the disease progresses ERG changes become more pronounced. Loss of cone function is more severe compared to loss of rod function (Goldstein et al., 2010).","defect":true,"group_name":"Retinal atrophy - Cone-rod dystrophy 3","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Progressive retinal atrophy; PRA-crd3","omia_group_id":1520,"omia_phene_id":2994,"omia_record_id":"OMIA:001520-9615","publication_ids":[109356,109357,112004,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2994","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"},{"name":"Schapendoes (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201181"}],"characterised":true,"characterised_year":2010,"clinical_features":"Lippman et al. (2007): \"gPRA in Schapendoes is characterized by late onset and slow progression ... . Affected Schapendoes dogs appear normal when young, but develop gPRA at an age of onset between 2-5 years. Early in the disease, affected dogs are night-blind, lacking the ability to adjust their vision to dim light; later, their daytime vision also fails. This process of complete photoreceptor degeneration takes up to 2 years.\" Murgiano et al. (2020) describe the clinical signs in Portugese water dogs: \"...visual deficits, including difficulty following moving objects and walking into still objects, which were reportedly worse under dim light, consistent with nyctalopia. These signs became progressively worse, compromising the animals’ vision under both dim and well-lit conditions. The age of onset was determined by the time point at which the visual deficits became noticeable to the owners or when ophthalmoscopic abnormalities were first noted. The male proband and the two affected females had decreased vision per the owner at initial presentation and were diagnosed ophthalmoscopically as EOPRA with an age of onset at 2 years. A second male dog had no obvious visual deficit per the owner at initial presentation at age 2 years and had unremarkable fundus when examined ophthalmoscopically. However, peripapillar changes suggestive of PRA developed by 3 years of age at which time electroretinography (ERG) was recommended but declined. This dog was re-examined at 6 years of age when visual impairment was evident, ERGs were undetectable ..., and ophthalmoscopic changes were consistent with mid-stage disease. The ophthalmoscopic changes observed were common in all affected dogs, characterized by generalized tapetal hyper-reflectivity, diffuse vascular attenuation, optic disc pallor, and multifocal depigmenta-tion of the non-tapetal fundus. .... A feature that was unique to this disease in all affected dogs was a distinct peripapillary ring of hyper-reflectivity or peripapillary conus ..., which progressed into a broader zone of hyper-reflectivity around the optic disc in advanced disease ... .\"","defect":true,"group_name":"Retinal atrophy, progressive, CCDC66-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Generalized PRA (gPRA), early‑onset progressive retinal atrophy","omia_group_id":1521,"omia_phene_id":2995,"omia_record_id":"OMIA:001521-9615","publication_ids":[109358,109359,112004,121069,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2995","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Northern Inuit Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200952"}],"characterised":true,"characterised_year":2010,"clinical_features":"Signs may be noticeable as early as 4 to 6 weeks of age (Carrig et al., 1997; Goldstein et al., 2010). Affected dogs have short-limbed dwarfism and vitreous dysplasia. Associated ophthalmic lesions include retinal detachment and cataracts. The forelimbs are most noticeably affected, particularly the short radius and ulna, which subsequently develop curvature with varus/valgus deformities (Carrig et al., 1997). In pups, the dome of the cranium is often pronounced and there is moderate excessive exotropic strabismus. Some, but not all, carriers have vitreal stands, focal retinal folds or plaques of retinal dysplasia.","defect":true,"group_name":"Oculoskeletal dysplasia 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Obligate heterozygotes do not have skeletal lesions but may exhibit mild ocular lesions (Goldstein et al., 2010).","mondo_terms":[],"name":"","omia_group_id":1522,"omia_phene_id":2996,"omia_record_id":"OMIA:001522-9615","publication_ids":[1163,30527,108203,109364,109365,111231,112004,112121,119825,121173,122218,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2996","source_release":"retrieved-2026-09-12","summary":"Oculoskeletal dysplasia 1 (osd1, drd1) is a collagen disorder characterized by short-limbed dwarfism, particularly of the forelimbs, and vitreous dysplasia with associated retinal detachment and cataracts.&nbsp;<br>See also <a href=\"../../../../../../OMIA001523/9615/\">OMIA:001523-9615</a> : Oculoskeletal dysplasia 2","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"}],"characterised":true,"characterised_year":2010,"clinical_features":"Signs may be noticeable as early as 4 to 6 weeks of age (Goldstein et al., 2010). Affected dogs have short-limbed dwarfism and vitreous dysplasia. Associated ophthalmic lesions include retinal detachment and cataracts. The forelimbs are most noticeably affected, particularly the short radius and ulna, which subsequently develop curvature with varus/valgus deformities (Meyers et al., 1983). In pups, the dome of the cranium is often pronounced and there is moderate excessive exotropic strabismus. Some, but not all, carriers have vitreal stands, focal retinal folds or plaques of retinal dysplasia (Goldstein et al., 2010).","defect":true,"group_name":"Oculoskeletal dysplasia 2","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Obligate heterozygotes do not have skeletal lesions but may exhibit mild ocular lesions (Goldstein et al., 2010).","mondo_terms":[],"name":"","omia_group_id":1523,"omia_phene_id":2997,"omia_record_id":"OMIA:001523-9615","publication_ids":[109364,109365,110561,111231,112004,112121,122218,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2997","source_release":"retrieved-2026-09-12","summary":"Oculoskeletal dysplasia 2 (osd2, drd2) is a collagen disorder characterized by short-limbed dwarfism, particularly of the forelimbs, and vitreous dysplasia with associated retinal detachment and cataracts. A genetic test is available.<br>See also <a href=\"https://www.omia.org/OMIA001522/9615/\">OMIA:001522-9615</a> : Oculoskeletal dysplasia 1","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"}],"characterised":false,"characterised_year":2010,"clinical_features":"GBM is an extrahepatic disease characterised by abnormal, intraluminal accumulation of mucus or thickened bile within the gallbladder. GBM commonly predisposes the animal to secondary gallbladder rupture, systemic infection, and extrahepatic biliary duct obstruction. Therefore, serum biochemistry often shows increased liver enzymes (AST, ALT) indicative of liver damage, hyperbilirubinemia, and leucocytosis in haematology. Common non-specific clinical signs include vomiting, lethargy, abdominal pain, anorexia, icterus, tachypnoea, polyuria-polydipsia, pyrexia, diarrhoea, and abdominal distention (Smalle, Cahalane & Köster, 2015). Chronic GBM progressing to ruptured gallbladders often present with more severe clinical signs of marked abdominal pain, jaundice, and pyrexia (Jaffey et al., 2019). [IT thanks DVM student Jonathan Haw Cherng Chee, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Gallbladder mucoceles","inheritance":null,"inheritance_text":"Mealey et al. (2010) initially proposed a dominant mode of inheritance with incomplete penetrance in Shetland Sheepdogs, based on the incomplete association between a proposed likely causal variant and disease phenotype. The authors acknowledged that further research is required. In a follow up study by Cullen et al. (2014) a multifactorial mode of inheritance as well as non-inherited etiology are discussed.","mondo_terms":[],"name":"","omia_group_id":1524,"omia_phene_id":2998,"omia_record_id":"OMIA:001524-9615","publication_ids":[109371,109372,109373,117196,123300,123301,123302,123303,129470],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2998","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2010,"clinical_features":"Key clinical signs include pyrexia, bleeding diathesis, and dental disease (Hugo & Heading, 2014; Boudreaux et al.,2010). Other signs may include joint effusions (Hugo & Heading, 2014), lameness, and infections, such as pododermatitis, deep pyoderma, and cellulitis (Boudreaux et al., 2010). Bleeding diathesis has been noted to occur following injury or surgery (Boudreaux et al., 2010; Hugo and Heading, 2014). Affected dogs have persistent leukocytosis and neutrophilia (Hugo & Heading, 2014; Boudreaux et al., 2010). Assays of haemostasis may yield variable results, including prolonged buccal mucosal bleeding times, normal coagulation screening assays and vWF antigen concentration, and delayed platelet aggregation and clot retraction (Hugo & Heading, 2014; Boudreaux et al., 2010).\r\nIT thanks DVM student Mulan Zhong, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Leukocyte adhesion deficiency, type III","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013016","iri":"http://purl.obolibrary.org/obo/MONDO_0013016","label":"leukocyte adhesion deficiency 3"}],"name":"","omia_group_id":1525,"omia_phene_id":2999,"omia_record_id":"OMIA:001525-9615","publication_ids":[109382,115976,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2999","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Priapism","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1166,"omia_phene_id":3006,"omia_record_id":"OMIA:001166-9615","publication_ids":[109450],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3006","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Compulsive disorder","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1530,"omia_phene_id":3007,"omia_record_id":"OMIA:001530-9615","publication_ids":[109476,109477,109478,113807,115961],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3007","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"}],"characterised":true,"characterised_year":2009,"clinical_features":"","defect":false,"group_name":"Furnishings (moustache and eyebrows)","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1531,"omia_phene_id":3008,"omia_record_id":"OMIA:001531-9615","publication_ids":[108791,109183,114090,117501],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3008","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Chesapeake Bay Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200326"},{"name":"Curly Coated Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200397"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Irish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200704"},{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"},{"name":"Spanish Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201280"}],"characterised":true,"characterised_year":2009,"clinical_features":"","defect":false,"group_name":"Curly coat","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":245,"omia_phene_id":3009,"omia_record_id":"OMIA:000245-9615","publication_ids":[108791,112957,117501,118190,118201,120501,121909,123917,125653,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3009","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Heterochromia irides/iridis/iridum","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":468,"omia_phene_id":3013,"omia_record_id":"OMIA:000468-9615","publication_ids":[28393,109521],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3013","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2004,"clinical_features":"","defect":false,"group_name":"Coat colour, agouti","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":201,"omia_phene_id":3027,"omia_record_id":"OMIA:000201-9615","publication_ids":[107410,109578,109579,109580,110284,110483,112418,112464,113910,119928,120501,120836,121985,121986,122763,122792,123112,123840,123917,124017,125653,125980,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3027","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Coat colour, cream dilution","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1344,"omia_phene_id":3030,"omia_record_id":"OMIA:001344-9615","publication_ids":[108339],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3030","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Eye colour","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":357,"omia_phene_id":3031,"omia_record_id":"OMIA:000357-9615","publication_ids":[109589,126504],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3031","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"}],"characterised":true,"characterised_year":2011,"clinical_features":"As reported by Merveille et al. (2014), \"Clinical findings were recurrent nasal discharge and cough, pyrexia, leucocytosis, and bronchopneumonia.\"","defect":true,"group_name":"Ciliary dyskinesia, primary, CCDC39-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013434","iri":"http://purl.obolibrary.org/obo/MONDO_0013434","label":"primary ciliary dyskinesia 14"}],"name":"Primary ciliary dyskinesia","omia_group_id":1540,"omia_phene_id":3042,"omia_record_id":"OMIA:001540-9615","publication_ids":[94434,109650,109658,115615],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3042","source_release":"retrieved-2026-09-12","summary":"Several types of primary ciliary dyskinesia exist. See also  'OMIA002206-9615 : Ciliary dyskinesia, primary, NME5-related in Canis lupus familiaris' and 'OMIA000573-9615 : Ciliary dyskinesia, primary, generic in Canis lupus familiaris'. \r\nPreviously, references to case reports of dogs with primary ciliary dyskinesia with unknown genetic cause were listed here, but these have been moved to the generic entry for this disease [3/6/2022].","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Norwich Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200962"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dyskinesia, paroxysmal","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"Scottie cramp","omia_group_id":1543,"omia_phene_id":3052,"omia_record_id":"OMIA:001543-9615","publication_ids":[6489,109760,110409,116829,117401,117402,117403,117404,117686,122055,122714,123101,123965,123966,123967,124423,124538,125751,128068,128328,128536,133518],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3052","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2012,"clinical_features":"","defect":true,"group_name":"Brachycephaly","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1551,"omia_phene_id":3060,"omia_record_id":"OMIA:001551-9615","publication_ids":[109833,109835,110290,113304,114081,114184,115262,115263,115264,116351,116853,117139,117632,120073,120315,120415,120416,120501,121263,121353,122017,122038,122133,122461,123057,123176,123816,123925,124126,124169,124181,124254,124361,124697,124805,125109,125337,125339,125653,125901,125910,126600,126602,126748,126903,126963,127072,127277,127330,127833,127892,128088,128104,128719,129444,129522,129567,129780,130270,130364,130508,130621,130671,130836,130887,132076,132199,132208,132253,132534,133056,133139,133152,133220,133323,133408],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3060","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chylothorax","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1422,"omia_phene_id":3061,"omia_record_id":"OMIA:001422-9615","publication_ids":[109839,109842,114633,114634,119923],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3061","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"}],"characterised":true,"characterised_year":2011,"clinical_features":"Behavioral signs usually appear around 4 to 6 years of age (Katz et al., 2005, Katz et al., 2007, Farias et al., 2011). Signs include behavioral changes, cognitive decline, cerebellar ataxia, dementia, seizures, nervousness, aggressiveness, loss of training, hypersensitivity to stimuli, loss of coordination, tremors, retinal degeneration, depressed rod function, some impairment of cone function, moderate visual impairment in low light, but good visual acuity in bright light.","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 12","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1552,"omia_phene_id":3062,"omia_record_id":"OMIA:001552-9615","publication_ids":[29996,107156,107326,108550,109866,109867,111611,114726,117735,118998,120540,122714,125653,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3062","source_release":"retrieved-2026-09-12","summary":"The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules and early neuronal death. In the Tibetan terrier, changes in behavior and vision begin at 4-6 years of age. A genetic test is available.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Coton de Tulear (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200389"}],"characterised":true,"characterised_year":2007,"clinical_features":"Signs of cmr include multiple tan-pink subretinal patches in both the tapetal and the non-tapetal fundus along with focal areas of tapetal hyper-reflectivity. The lesions elevate the retina, progressing as the dog ages, to focal areas of retinal degeneration and retinal pigment epithelial hypertrophy and pigmentation (Grahn et al., 1998).","defect":true,"group_name":"Multifocal retinopathy 2","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0700239","iri":"http://purl.obolibrary.org/obo/MONDO_0700239","label":"BEST1-related recessive retinopathy"}],"name":"","omia_group_id":1553,"omia_phene_id":3065,"omia_record_id":"OMIA:001553-9615","publication_ids":[108237,109605,110283,112004,112157,115070,125219,125653,127074,127859,129012,129036,129719,129760,130075,133228],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3065","source_release":"retrieved-2026-09-12","summary":"Canine multifocal retinopathy (cmr) is an ocular disorder characterized by multiple areas of retinal degeneration. The detection of three different mutations in the one gene (BEST1) has led to the naming of three different forms of the disorder (cmr1 [<a href=\"../../../../../../OMIA001444/9615/\">OMIA:001444-9615</a>], cmr2 [OMIA:001553-9615], cmr3 [<a href=\"../../../../../../OMIA001554/9615/\">OMIA:001554-9615</a>]), all of which are very similar clinically. The form of cmr detailed in this entry (cmr2) occurs in the Coton du Tulear breed.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Finnish Lapphund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200523"},{"name":"Lapponian Herder (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200814"}],"characterised":true,"characterised_year":2010,"clinical_features":"Signs of cmr include multiple tan-pink subretinal patches in both the tapetal and the non-tapetal fundus along with focal areas of tapetal hyper-reflectivity. The lesions elevate the retina, progressing as the dog ages, to focal areas of retinal degeneration and retinal pigment epithelial hypertrophy and pigmentation (Grahn et al., 1998).","defect":true,"group_name":"Multifocal retinopathy 3","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0700239","iri":"http://purl.obolibrary.org/obo/MONDO_0700239","label":"BEST1-related recessive retinopathy"}],"name":"","omia_group_id":1554,"omia_phene_id":3066,"omia_record_id":"OMIA:001554-9615","publication_ids":[108237,109605,109893,112004,112157,115070,116893,122029,125219,127074,127859,129012,129036,129719,129760,130075,133228],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3066","source_release":"retrieved-2026-09-12","summary":"Canine multifocal retinopathy (cmr) is an ocular disorder characterized by multiple areas of retinal degeneration. The disorder detailed in this entry (cmr3) has essentially the same cinical signs as the other two forms of cmr (namely cmr1 [<a href=\"../../../../../../OMIA001444/9615/\">OMIA:001444-9615</a>] and cmr2 [<a href=\"../../../../../../OMIA001553/9615/\">OMIA:001553-9615</a>]), but as explained by Zangerl et al. (2010), the nature of the cmr3 mutation suggests a different molecular mechanism.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Niemann-Pick disease, type C1","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009757","iri":"http://purl.obolibrary.org/obo/MONDO_0009757","label":"Niemann-Pick disease, type C1"}],"name":"","omia_group_id":725,"omia_phene_id":3068,"omia_record_id":"OMIA:000725-9615","publication_ids":[109914],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3068","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"}],"characterised":true,"characterised_year":2011,"clinical_features":"Shar-Pei autoinflammatory disease (SPAID) is characterized by five signs of inflammation: familial Shar-Pei fever (FSF), arthritis, vesicular hyaluronosis, otitis and amyloidosis.","defect":true,"group_name":"Periodic Fever Syndrome","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"Hyaluronanosis; familial Shar-Pei fever; hereditary cutaneous hyaluronosis/mucinosis; canine autoinflammatory disease (AID);  Shar-Pei autoinflammatory disease (SPAID); Shar-Pei recurrent fever syndrome; swollen hock syndrome","omia_group_id":1561,"omia_phene_id":3076,"omia_record_id":"OMIA:001561-9615","publication_ids":[44684,110034,110035,110036,110397,112198,115074,115075,115996,116429,117583,123125,124494,126596],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3076","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sebaceous adenitis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1563,"omia_phene_id":3078,"omia_record_id":"OMIA:001563-9615","publication_ids":[110058,110059,110060,110061,110062,110063,110064,110065,110066,110067,110068,110069,110070,110071,110072,114074,118050,132413],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3078","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Greater Swiss Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200631"}],"characterised":true,"characterised_year":2011,"clinical_features":"Flores et al. (2017) report that affected dogs have prolonged buccal mucosal bleeding time, tachycardia, pallor, decreased PCV and peritoneal effusion postoperatively. Boudreaux and Martin (2011) suggest that spontaneous haemorrhage is absent to mild in affected dogs but that excessive (and potentially fatal) bleeding can occur after surgical procedures or trauma. Diagnostic tests such as platelet counts, coagulation screening assays (PT &amp; APTT) and von Willebrand factor antigen activity tests have returned as normal in the reported cases (Boudreaux and Martin, 2011). However, flow cytometric studies have shown that affected dogs’ platelets have a markedly reduced response to ADP (Flores et al., 2017). IT thanks DVM student Emily Pratten, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Bleeding disorder, P2RY12-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012354","iri":"http://purl.obolibrary.org/obo/MONDO_0012354","label":"platelet-type bleeding disorder 8"}],"name":"ADP response impaired; Postoperative haemorrhage/ hemorrhage, Greater Swiss Mountain dog postoperative haemorrhage","omia_group_id":1564,"omia_phene_id":3079,"omia_record_id":"OMIA:001564-9615","publication_ids":[110111,117675,124355,125653,125867],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3079","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201454"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Persistent right aortic arch, with subclavian artery and ligamentum arteriosum","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1570,"omia_phene_id":3088,"omia_record_id":"OMIA:001570-9615","publication_ids":[110167,110497],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3088","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2011,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, SLC4A3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Golden Retriever PRA1, Golden Retriever progressive retinal atrophy 1","omia_group_id":1572,"omia_phene_id":3094,"omia_record_id":"OMIA:001572-9615","publication_ids":[110245,112004,123857,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3094","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2011,"clinical_features":"","defect":true,"group_name":"Leukaemia, chronic monocytic","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"Chronic monocytic leukemia","omia_group_id":1573,"omia_phene_id":3095,"omia_record_id":"OMIA:001573-9615","publication_ids":[110253,124551],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3095","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Frisian Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200555"}],"characterised":true,"characterised_year":2011,"clinical_features":"","defect":true,"group_name":"Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011086","iri":"http://purl.obolibrary.org/obo/MONDO_0011086","label":"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive"}],"name":"","omia_group_id":1574,"omia_phene_id":3096,"omia_record_id":"OMIA:001574-9615","publication_ids":[110286],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3096","source_release":"retrieved-2026-09-12","summary":"See also '<a href=\"https://www.omia.org/OMIA001574/9615/\">OMIA:000220-9615</a> : Severe combined immunodeficiency disease, autosomal, PRKDC-related' for severe combined immunodeficiency disease caused by genetic variants in the PRKDC gene.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Schapendoes (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201181"}],"characterised":true,"characterised_year":2011,"clinical_features":"Affected dogs present with visual deficits which progress to complete blindness, as well as progressive anxiety, cognitive and motor degeneration, circling, and incoordination (Katz et al., 2011).","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 6","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011144","iri":"http://purl.obolibrary.org/obo/MONDO_0011144","label":"ceroid lipofuscinosis, neuronal, 6A"}],"name":"","omia_group_id":1443,"omia_phene_id":3097,"omia_record_id":"OMIA:001443-9615","publication_ids":[108549,110287,110465,113540,117735,120540,122714,127780,127861,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3097","source_release":"retrieved-2026-09-12","summary":"The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules and early neuronal death. Dogs with NCL6 have early-onset, progressive disease that results in blindness and premature death. A genetic test is available.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Gordon Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200613"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Old Danish Pointing Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0000668"},{"name":"Polish Lowland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201035"},{"name":"Polish Tatra Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201037"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"}],"characterised":true,"characterised_year":2013,"clinical_features":"","defect":true,"group_name":"Retinal atrophy - Rod-cone dysplasia 4","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013263","iri":"http://purl.obolibrary.org/obo/MONDO_0013263","label":"retinitis pigmentosa 54"}],"name":"progressive retinal atrophy","omia_group_id":1575,"omia_phene_id":3098,"omia_record_id":"OMIA:001575-9615","publication_ids":[110291,112004,112458,117977,117978,118021,120017,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3098","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Curly Coated Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200397"}],"characterised":true,"characterised_year":2007,"clinical_features":"Affected dogs show increases in ALT, ALP, and CK within the first year of life.  By 14 months of age, lethargy, exercise intolerance, and collapse after exercise may become apparent (Gregory et al., 2007). The disease in Curly-Coated Retrievers is mild compared to what was reported in German shepherds (Ceh et al., 1976; Rafiquzzaman et al., 1976) as a severe metabolic derangement that led to death or euthanasia by 15 months of age. This is likely due to a different mutation or genetic background. \r\nYi et al. (2012) provided a detailed clinical account of the disorder in Curly Coat Retrievers, having established a colony that segregates for the causal mutation described above. They summarise their findings as: \" Abnormally high glycogen deposition was found in liver and muscle, and, consistent with liver and muscle damage, high and gradually increasing activity of enzymes including AST, ALT, ALP and CPK were found in serum. In muscle, increased glycogen deposition was accompanied by disruption of the contractile apparatus and fraying of myofibrils. Progressive, age-related liver fibrosis and muscle damage caused by glycogen accumulation were the major features of GSD IIIa in affected dogs.\"","defect":true,"group_name":"Glycogen storage disease IIIa","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009291","iri":"http://purl.obolibrary.org/obo/MONDO_0009291","label":"glycogen storage disease III"}],"name":"","omia_group_id":1577,"omia_phene_id":3100,"omia_record_id":"OMIA:001577-9615","publication_ids":[110313,110318,110320,110453,110454,113705,115470,116384,121122],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3100","source_release":"retrieved-2026-09-12","summary":"Glycogen storage disease IIIa (GSD IIIa) is a disorder of glycogen metabolism characterized by glycogen accumulation in tissue and altered glucose homeostasis. Lethargy, exercise intolerance, and collapse after exercise may become apparent by 14 months of age. Dogs with GSD IIIa are deficient in glycogen debranching enzyme, so instead of breaking down glycogen into glucose, they accumulate abnormal glycogen particles.  This mostly happens in liver and muscle, which are the tissues that have the highest levels of glycogen metabolism.\r\nThe mode of inheritance is autosomal recessive. The causative mutation is an adenosine deletion causing premature termination of AGL translation. A test is available to detect the mutation. Parents and siblings of affected dogs should be tested.  Breeding of affected animals is not recommended.  If a carrier must be bred, it is advised to breed that dog only to a dog that has tested as homozygous normal.\r\n\r\nEdited by John C. Fyfe, D.V.M., Ph.D.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"}],"characterised":true,"characterised_year":2007,"clinical_features":"Affected dogs show an unusual amount of muscularity, especially in the neck and legs. They are broad chested and typically don’t conform to the breed standard (slim, long neck, pointed snout) (Mosher et al., 2007). Dogs with a single copy of the mutation show a smaller degree of hypermuscularity are significantly faster than homozygous wild-type whippets (Mosher et al., 2007). Hence, being heterozygous for the mutation is considered performance enhancing. For whippets with a double copy of the mutation, there is little evidence about potential associated health risks. It has been anecdotally reported amongst breeders that affected whippets are otherwise generally healthy and only suffer from occasional muscle cramps and a distinctive overbite (Mosher et al., 2007).\r\nIT thanks DVM student Lucas Anderson, who provided the basis of this contribution in May 2023.","defect":false,"group_name":"Muscular hypertrophy (double muscling)","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013598","iri":"http://purl.obolibrary.org/obo/MONDO_0013598","label":"myostatin-related muscle hypertrophy"}],"name":"Hypermuscularity; gross muscle hypertrophy; 'bully' whippets","omia_group_id":683,"omia_phene_id":3103,"omia_record_id":"OMIA:000683-9615","publication_ids":[110347,110348,110351,118131,121967,123595,124894,130406],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3103","source_release":"retrieved-2026-09-12","summary":"In addition to the occurrence of natural variants for this trait, variants have been created artificially (e.g. Zou et al., 2015): Genetically-modifed organism; GMO.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":1997,"clinical_features":"","defect":false,"group_name":"Deficiency of cytosolic arylamine N-acetylation","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1587,"omia_phene_id":3114,"omia_record_id":"OMIA:001587-9615","publication_ids":[110394],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3114","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2012,"clinical_features":"","defect":true,"group_name":"Ichthyosis, PNPLA1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"This entry was previously called Ichthyosis, Golden Retriever","omia_group_id":1588,"omia_phene_id":3115,"omia_record_id":"OMIA:001588-9615","publication_ids":[108807,112203,112324,112325,112326,112389,116425,116454,116750,116873,122523,122810,123125,123150,123600,125653,129492,132569],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3115","source_release":"retrieved-2026-09-12","summary":"At the time when the causal mutation for this disorder was discovered to be in the PNPLA1 gene in Golden Retrievers, this gene had not been implicated in any human cases of the same disorder nor in any other diseases. Having made the canine discovery, Grall et al. (2012) then sequenced the PNPLA1 gene in human families with affected individuals, and discovered \"one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families\". This is an original way to discover clinically-important human mutations: to start by identifying what appear to be homologous disorders in spontaneous animal models, to identify the causal mutation in the animal model, and then use such knowledge to inform human medicine and also benefit veterinary medicine. (Thanks to Catherine André and Judith Fischer for their suggestions to FN in relation to this and other sections of this page; 27 January 2012)","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Anal furunculosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1589,"omia_phene_id":3116,"omia_record_id":"OMIA:001589-9615","publication_ids":[110398,110399,110400,110401,115523,116737,116738,116739,116740,116741,116742,116743],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3116","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2003,"clinical_features":"","defect":false,"group_name":"Coat colour, melanistic mask","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1590,"omia_phene_id":3117,"omia_record_id":"OMIA:001590-9615","publication_ids":[109582,112591,118064,121377,122792,123315,123917,124017,125653,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3117","source_release":"retrieved-2026-09-12","summary":"See also: <a href=\"../../../../../../OMIA001199/9615/\">OMIA:001199-9615</a> : Coat colour, extension in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"}],"characterised":true,"characterised_year":2012,"clinical_features":"Episodic falling syndrome (EFS) in Cavalier King Charles Spaniels is characterised by episodes of ascending hypertonicity affecting the thoracic and pelvic limbs (Gill et al., 2012). Onset of the disease is between 14 weeks and 4 years of age, with varying frequency and severity (Gill et al., 2012). During an episode the dog is ultimately immobilised in a distinctive “deer-stalking” or “praying” position (Gill et al., 2012) and usually recovery of limb function takes 10 minutes (Wright et al., 1987). These episodes can be triggered by exercise, stress, apprehension, or excitement (Herrtage &amp; Palmer, 1983). During exercise, the dogs fall while maintaining consciousness and without cyanosis (Gill et al., 2012). Facial muscle stiffening, stumbling, “bunny-hopping” gait, arching of the back or vocalisation may also be observed (Gill et al., 2012). Dogs present completely normal neurologically between the episodes (Herrtage and Palmer, 1983; Gill et al., 2012). [IT thanks DVM students Kiva Waugh and Samantha Su Yuen Lim, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Episodic falling, BCAN-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"also called: episodic falling syndrome, episodic hypertonicity, hyperekplexia, muscle hypertonicity, paroxysmal exercise-induced dystonia, dyskinesia","omia_group_id":1592,"omia_phene_id":3119,"omia_record_id":"OMIA:001592-9615","publication_ids":[110409,110437,112200,120017,123341,123342,123343,123344,123965,128068,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3119","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Irish Wolfhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200706"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Spanish Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201274"}],"characterised":true,"characterised_year":2011,"clinical_features":"Clinical signs begin at birth. Puppies display an involuntary ‘startle response’ characterised by generalised or intermittent extensor rigidity induced by unexpected handling or noise (Gill et al., 2011). Neonatal Irish wolfhounds have been reported to develop cyanosis and pneumonia when feeding due to extended periods of rigidity causing apnoea (Gill et al., 2011). Neonatal Spanish greyhounds were unable to properly walk or stand due to episodes of extensor rigidity. When owners attempted to assists the puppies with walking, their touch induced further extensor rigidity (Murphy et al. ̧ 2019). Neonatal death in hyperekplexic puppies is not uncommon due to the complications of feeding and breathing during hypertonic episodes/startle responses. IT thanks DVM student Emily Ketchum, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Hyperekplexia (Startle disease), SLC6A5-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Gill et al. (2019): \"a rapid genotyping test that revealed heterozygosity for the deletion in the dam and sire and three other siblings, confirming recessive inheritance.\" Murphy et al. (2019): \"Family members were genotyped for the deletion, and findings were consistent with an autosomal recessive inheritance pattern.\"","mondo_terms":[{"id":"MONDO:0013827","iri":"http://purl.obolibrary.org/obo/MONDO_0013827","label":"hyperekplexia 3"}],"name":"","omia_group_id":1594,"omia_phene_id":3122,"omia_record_id":"OMIA:001594-9615","publication_ids":[110436,112087,118731,122714,128324,129646],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3122","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"}],"characterised":true,"characterised_year":2011,"clinical_features":"BFJE is characterised by juvenile-onset seizures beginning at five to nine weeks of age and typically spontaneously remit by thirteen weeks of age (Jokinen et al., 2007). Affected puppies exhibit generalised tremor, ataxia and stiffness during seizures and severe cases show neurological signs such as ataxia and hypermetria between epileptic episodes (Jokinen et al., 2007). Seizures can occur at any time of the day and the puppy may or may not be conscious during the episode (Jokinen et al., 2007). Following remission, BFJE-affected puppies often show behavioural abnormalities in adulthood, including increased inattention and excitability (Jokinen et al., 2015). On rare occasions, the patient may experience seizures years after remission, or develop progressive neurological disorders that eventually require euthanasia (Jokinen et al., 2015). BFJE puppies show epileptiform activity on electroencephalogram, both during and in between epileptic episodes.\r\nIT thanks DVM student Tina Gong, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Epilepsy, benign familial juvenile, LGI2-related","inheritance":{"code":"ADIP","name":"Autosomal dominant with incomplete penetrance"},"inheritance_text":"Seppälä et al. (2011): \"BFJE is transmitted in imperfect Mendelian fashion. In the vast majority of cases, 93%, homozygous mutation is required for the disease to manifest. In a minority, 7%, heterozygosity suffices. Conversely, 1.8% of dogs may be resistant to seizing despite homozygous mutation. Finally, we found no dog with homozygous wt genotype at Lgi2 c.1552 that has BFJE.\"","mondo_terms":[],"name":"Benign familial juvenile epilepsy; remitting focal epilepsy; benign juvenile epilepsy syndrome; juvenile epilepsy","omia_group_id":1596,"omia_phene_id":3124,"omia_record_id":"OMIA:001596-9615","publication_ids":[110056,110446,114091,114990,117301,124814,125653,128324,128810],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3124","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Racing performance","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1600,"omia_phene_id":3130,"omia_record_id":"OMIA:001600-9615","publication_ids":[110500,110501],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3130","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"}],"characterised":true,"characterised_year":2011,"clinical_features":"Flatland et al. (2011): \"An 8-year-old female spayed Pug dog was presented for evaluation of cutaneous lesions occurring secondary to immunosuppressive treatment of presumed immune-mediated thrombocytopenia. Abnormal hematologic findings included persistent thrombocytopenia, macrothrombocytes, and variably shaped, often fusiform, blue cytoplasmic inclusions in neutrophils.\"","defect":true,"group_name":"May-Hegglin anomaly","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1608,"omia_phene_id":3145,"omia_record_id":"OMIA:001608-9615","publication_ids":[110639],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3145","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Braque du Bourbonnais (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200221"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Vizsla (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201389"}],"characterised":true,"characterised_year":2020,"clinical_features":"This is an exfoliating skin disease, with significant scaling and crusting that begin on the face, ears and back. Scaling progresses to involve the entire body. Secondary infections are common. Lesions can be scales, crusts, pustules, papules, erythema, and/or alopecia (Wang et al., 2011, Vroom et al., 1995, Mauldin et al., 2010). Most affected dogs present before 10 months of age, but signs can begin as late as 2.75 years. Dogs that live with this condition for several years may develop lupus nephritis. Many dogs show lameness and a hunched stance due to arthralgia. Dogs can also become infertile, with low sperm counts and abnormal estrous cycles (Wang et al., 2011, Mauldin et al., 2010).","defect":true,"group_name":"Exfoliative cutaneous lupus erythematosus","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Wang et al. (2011) confirmed the autosomal recessive inheritance of this disorder in German shorthair pointers.","mondo_terms":[],"name":"","omia_group_id":1609,"omia_phene_id":3146,"omia_record_id":"OMIA:001609-9615","publication_ids":[37619,63427,110643,110644,110645,117566,118004,120447,120450,123125,125008,128454],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3146","source_release":"retrieved-2026-09-12","summary":"Exfoliative cutaneous lupus erythematosus is characterized by scaling and crusting skin lesions that progress over the entire body. In later stages, the disease may also become systemic with the involvement of additional organs.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypospadias","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1187,"omia_phene_id":3160,"omia_record_id":"OMIA:001187-9615","publication_ids":[110751,119166,121126,127232,133235],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3160","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cyclopia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":249,"omia_phene_id":3202,"omia_record_id":"OMIA:000249-9615","publication_ids":[111206],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3202","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Multiple anomalies","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":669,"omia_phene_id":3213,"omia_record_id":"OMIA:000669-9615","publication_ids":[111254,130422,130430],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3213","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Acrodermatitis enteropathica","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008713","iri":"http://purl.obolibrary.org/obo/MONDO_0008713","label":"acrodermatitis enteropathica"}],"name":"","omia_group_id":593,"omia_phene_id":3214,"omia_record_id":"OMIA:000593-9615","publication_ids":[110072,111282,126075],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3214","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"}],"characterised":true,"characterised_year":2013,"clinical_features":"","defect":true,"group_name":"Centronuclear myopathy 2, BIN1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Inherited myopathy of Great Danes","omia_group_id":1660,"omia_phene_id":3265,"omia_record_id":"OMIA:001660-9615","publication_ids":[111521,111523,111524,111525,111526,114406],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3265","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Otocephaly, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1127,"omia_phene_id":3267,"omia_record_id":"OMIA:001127-9615","publication_ids":[111559,111560,111561,111562],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3267","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201029"},{"name":"Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201211"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Necrosis of digits","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1665,"omia_phene_id":3283,"omia_record_id":"OMIA:001665-9615","publication_ids":[3871,5308,9340,111839,111840],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3283","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Heat tolerance","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1667,"omia_phene_id":3287,"omia_record_id":"OMIA:001667-9615","publication_ids":[111893],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3287","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Sloughi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201242"}],"characterised":true,"characterised_year":2000,"clinical_features":"","defect":true,"group_name":"Retinal atrophy - Rod-cone dysplasia 1a","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1669,"omia_phene_id":3298,"omia_record_id":"OMIA:001669-9615","publication_ids":[112004,112005,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3298","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Rod dysplasia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1670,"omia_phene_id":3299,"omia_record_id":"OMIA:001670-9615","publication_ids":[112004,112016],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3299","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Coton de Tulear (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200389"},{"name":"Tibetan Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201352"}],"characterised":true,"characterised_year":2012,"clinical_features":"Tibetan Spaniels with type 1 primary hyperoxaluria usually present at a young age (from 5 weeks of age) with vomiting, diarrhoea, inappetence, weight loss, poor growth, depression, polydipsia (excessive thirst), polyuria (excessive production of urine) and may have anaemia (Jansen and Arnesen, 1990). The two affected Tibetian Spaniels were emaciated and anaemic at 7- and 9-weeks of age when they were euthanised (Jansen and Arnesen, 1990). Vidgren et al. (2012) report that in Coton de Tulear puppies onset is sudden, starting at an age of 3–4 weeks and resulted in euthanasia within a week.\r\nIT thanks DVM student Jess Hanna, who provided the basis of this contribution in May 2023","defect":true,"group_name":"Hyperoxaluria, primary, type I (Oxalosis I)","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009823","iri":"http://purl.obolibrary.org/obo/MONDO_0009823","label":"primary hyperoxaluria type 1"}],"name":"familial oxalate nephropathy","omia_group_id":1672,"omia_phene_id":3301,"omia_record_id":"OMIA:001672-9615","publication_ids":[112056,112057,112683,132657,133097],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3301","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"}],"characterised":true,"characterised_year":2013,"clinical_features":"As reported by Kijas et al. (2004): \"early, severe, and rapidly progressive loss of cone function accompanied by progressive rod loss that is only relatively slower\". Very similar clinical signs were reported by Kijas et al. (2004) in a family of Pit Bull Terriers, but these authors showed that the two disorders are not allelic, and consequently named the other disorder crd2 (see OMIA 001675-9615)","defect":true,"group_name":"Retinal atrophy - Cone-rod dystrophy 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1674,"omia_phene_id":3312,"omia_record_id":"OMIA:001674-9615","publication_ids":[111397,112004,114956,124796,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3312","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"}],"characterised":true,"characterised_year":2013,"clinical_features":"As reported by Kijas et al. (2004): \"early, severe, and rapidly progressive loss of cone function accompanied by progressive rod loss that is only relatively slower\". Very similar clinical signs were reported by Kijas et al. (2004) in a family of American Staffordshire Terriers, but these authors showed that the two disorders are not allelic, and consequently named the other disorder crd1 (see OMIA 001674-9615)","defect":true,"group_name":"Retinal atrophy - Cone-rod dystrophy 2","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1675,"omia_phene_id":3313,"omia_record_id":"OMIA:001675-9615","publication_ids":[111397,112004,114956,116884,121404,123561,124796,125219,126631,126774,129012,129719,129760],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3313","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Achromatopsia (cone degeneration, hemeralopia), GSPT (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1676,"omia_phene_id":3314,"omia_record_id":"OMIA:001676-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3314","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Cattle Dog X","vbo_id":null},{"name":"German Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200574"}],"characterised":true,"characterised_year":2005,"clinical_features":"Herrmann et al. (2021): \"Five of eight puppies in an Australian cattle dog cross-bred litter showed signs of skin fragility. Three were stillborn and one died at one month of age. The two surviving puppies were presented with blistering skin disease and severe respiratory distress.\"<br>Kiener et al. (2026): \"All three affected puppies shared similar clinical signs, which started ataround 6–8 weeks of age and included complete loss of nails, deep ulcers in the paw pads and oral mucosa, vesicles and ulcers in the inner pinna, ulcers and bullae in the inguinal area andabdomen, and enamel hypoplasia. Two of the puppies also suffered from unilateral non-healing very large cornealulcers. All three affected puppies were euthanized a few weeks after diagnosis due to severe clinical deterioration, loss of appetite, and unmanageable pain.\"","defect":true,"group_name":"Epidermolysis bullosa, junctionalis, LAMA3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1677,"omia_phene_id":3315,"omia_record_id":"OMIA:001677-9615","publication_ids":[77012,77841,107185,112377,121861,122274,123125,123600,127702,133432],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3315","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"}],"characterised":true,"characterised_year":2012,"clinical_features":"CKCSID presents as a combination of two primary disease processes: Keratoconjunctivitis sicca: Decreased tear production leads to drying of the surface of the eye. Common signs include redness in one or both eyes, with a thick mucoid discharge. Chronic dry eyeball surfaces often predisposes to corneal ulceration and further painful secondary bacterial conjunctivitis (Barnett, 2006). Ichythyosiform dermatosis: Typically presents as a rough and curly coat with possible multifocal alopecia. The epidermis is generally dry, scale-like, and flakes off, particularly around the dorsal spine and lateral flankregion. The abdominal venter may be hyperpigmented, whilst the footpads typically show signs of hyperkeratinization. The nails may present with marked growth abnormalities (Hartley et al., 2012). [IT thanks DVM student Tom Spunar, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Dry eye curly coat syndrome","omia_group_id":1683,"omia_phene_id":3325,"omia_record_id":"OMIA:001683-9615","publication_ids":[112165,112166,112200,112425,118028,120017,123125,123291,125219],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3325","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Dachshund, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200408"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Inflammatory bowel disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"The term 'inflammatory bowel disease' has been used historically to describe canine chronic enteropathy / chronic inflammatory enteropathy (CIE)","omia_group_id":1687,"omia_phene_id":3335,"omia_record_id":"OMIA:001687-9615","publication_ids":[112224,112225,112226,112227,112228,112229,112230,112231,112232,112233,118054,121706,123147,124412,124418,124437,124601,125404,125543,125868,126651,126666,127087,127364,127787,130654,132616,132621,132995,133211],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3335","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hydrops foetalis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":493,"omia_phene_id":3340,"omia_record_id":"OMIA:000493-9615","publication_ids":[8284,111529,127232,127515,129205],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3340","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Recombination rate","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1691,"omia_phene_id":3346,"omia_record_id":"OMIA:001691-9615","publication_ids":[112360,115354,116964,132062],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3346","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Finnish Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200522"}],"characterised":true,"characterised_year":2012,"clinical_features":"\"Neurological examinations on ten affected dogs revealed rapidly progressing generalized cerebellar ataxia, tremors, and failure to thrive. Clinical signs were present by the age of 3 months, and cerebellar shrinkage was detectable through MRI.\" (Kyöstilä et al. (2012)","defect":true,"group_name":"Ataxia, cerebellar, progressive early-onset, SEL1L-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1692,"omia_phene_id":3348,"omia_record_id":"OMIA:001692-9615","publication_ids":[112391,112392,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3348","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the SEL1L gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus, locus heterogeneity for this phenotype must be considered.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Poodle, Toy (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201061"},{"name":"Shiba Inu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201220"}],"characterised":true,"characterised_year":2012,"clinical_features":"","defect":true,"group_name":"Gangliosidosis, GM2, type II (Sandhoff or variant 0)","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010006","iri":"http://purl.obolibrary.org/obo/MONDO_0010006","label":"Sandhoff disease"}],"name":"","omia_group_id":1462,"omia_phene_id":3364,"omia_record_id":"OMIA:001462-9615","publication_ids":[101709,107240,110100,110322,112530,115065,116176,116393,116959,117708,118905],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3364","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lymphoma, non-Hodgkin","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1708,"omia_phene_id":3369,"omia_record_id":"OMIA:001708-9615","publication_ids":[112552,112990,114091,116459,117655,121579,124451,124551],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3369","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"As reported by Hale (1995): \"DEA 1.1 and 1.2 antibody-antigen interactions result in acute hemolytic transfusion reactions.\" \r\nAs reported by Hohenhaus (2004): \"Reports of transfusion reactions mediated by alloantibodies are infrequent in dogs receiving transfusions, perhaps because of the low frequency of naturally occurring clinically significant antibodies, the rarity of second transfusions in dogs, or more likely underreporting. Retrospective studies of blood transfusions in dog report rates of adverse effects of transfusion between 3% and 13%. [Kerl and Hohenhaus, 1993; Callan et al., 1996]. The most immunogenic of the DEA is 1.1. Transfusion of DEA 1.2–positive erythrocytes into a previously sensitized recipient produces widely variable clinical signs depending on how strongly reactive the antibodies are [Swisher and Young, 1961]. An acute hemolytic transfusion reaction has been described because of an alloantibody against DEA 1.1 [Giger et al., 1995]. Three years before the reported reaction, a DEA 1.1–negative dog received an untyped and unmatched ransfusion for treatment of anemia caused by immune hemolysis. During relapse of the immune-mediated hemolytic anemia, the dog received an emergency transfusion of unmatched red blood cells. One hour later, the dog developed fever, hemoglobinemia, and hemoglobinuria. The recipient was DEA 1.1 negative and the donor DEA 1.1 positive, and it was hypothesized the recipient had been sensitized during the previous transfusion. The alloantibody was of the IgG class and had a hemolysin titer of 1:128 and a hemagglutinin titer of 1:16.\" \r\nMore recently, Tocci (2010) reported that \"Currently, DEAs 1.1 and 1.2 are considered important in transfusion medicine. DEA 1.1 is known to be extremely antigenic, and DEA 1.1 negative dogs exposed to DEA 1.1 positive RBCs likely become sensitized and produce an anti–DEA 1.1 alloantibody. Subsequent transfusions of DEA 1.1 positive RBC in the DEA 1.1 negative patient result in an acute hemolytic crisis. Therefore, DEA 1.1 is the antigen routinely determined in patients and donors, and 42% of the canine population is positive.[Hohenhaus, 2004]. An acute hemolytic transfusion reaction (AHTR) has been reported in a DEA 1.1 negative dog, which had developed antibodies to DEA 1.1 from a previous transfusion of DEA 1.1 positive RBC.[Giger et al., 1995]\"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen (DEA) 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Symons and Bell (1991) provided convincing family-segregation evidence that the presence of antigen is dominant to its absence, in conformity with our understanding of the biology of blood groups. They also showed a dominance hierarchy of A1 > A2 > A3, meaning that heterozygotes for A1 and A2 exhibit only A1 and heterozygotes for A2 and A3 exhibit only A2. ","mondo_terms":[],"name":"Previously known as Blood Group System A, or canine erythrocyte antigen (CEA) 1 and 2","omia_group_id":1713,"omia_phene_id":3376,"omia_record_id":"OMIA:001713-9615","publication_ids":[32435,58557,80589,109207,109208,109209,112651,112652,112653,112654,112655,112656,112657,112658,113611,113613,113615,113616,113617,113618,113619,113621,117147,117148,117149,117150,117151,117153,120446,120516,121350,122970,124604,129198,130462,131065,131093],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3376","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Pyrenean Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201113"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"}],"characterised":false,"characterised_year":null,"clinical_features":"A cleft lip is a type of orofacial cleft that can manifest as a facial deformity due to incomplete fusion of the lip, incisive bone and/or the alveolar process (Pankowski et al., 2018) Cleft palates are orofacial clefts that involve a midline defect of the hard and/or soft palate, resulting in a hole between the oral and nasal cavity (Pankowski et al., 2018). These clefts occur during embryonic development as a result of incomplete fusion of oral or facial tissues (Roman et al., 2019). Cleft lips and palates are generally recognised in neonatal puppies via visual examination or observation of sneezing, coughing, gagging or drainage of milk from the nostrils during feeding (Roman et al., 2019). Cleft palates generally have far more clinical significance than cleft lips. While most cleft lips only present cosmetic issues, large cleft lips and cleft palates present severe feeding issues in puppies and can lead to failure to grow, chronic sinus infections and aspiration pneumonia (Roman et al., 2019).\r\nIT thanks DVM student Mathilda Harrop, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Cleft lip and palate","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1714,"omia_phene_id":3379,"omia_record_id":"OMIA:001714-9615","publication_ids":[8311,112745,112746,112749,115561,115562,115566,115567,115568,117705,120073,123356,123357,124819,125849,127232,128341,130002],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3379","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Melanoma, malignant","inheritance":null,"inheritance_text":"Genetic pre-disposition to cancer have been described, suggesting that it is a multifactorial disease. Somatic mutations in the KIT gene have been identified in canine malignant melanomas and such mutations may indicate responsiveness to specific therapeutic interventions. Tani et al. (2021) present such an example of pharmacogenetics, reporting \"a canine case of malignant melanoma that responded to toceranib therapy. KIT encoded by KIT harboring a mutation c.1725_1733del is a potential therapeutic target for toceranib in canine malignant melanoma.\"","mondo_terms":[],"name":"","omia_group_id":1724,"omia_phene_id":3390,"omia_record_id":"OMIA:001724-9615","publication_ids":[112931,112932,112933,114223,118182,121386,121387,121388,121389,121516,122135,122694,124076,124551,124615,124755,124758,125517,126119,126815,127101,127377,127547,127556,127616,127621,127831,127996,128512,128555,128609,129069,129080,129901,130315,130413,130782,131100,131129,132119,132160,132269,132291,132485,132487,132853,133230,133342,133487],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3390","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"}],"characterised":false,"characterised_year":null,"clinical_features":"As reported by Yokoyama et al. (2012): \"the owners of the dogs included in this study estimated the age of onset of hearing loss based upon close observations of behavioral characteristics in working dogs indicating poor hearing (e.g., reduced call distance, poor performance). The average estimated age of onset was 4.3 years (S.E. of 0.5 years), with a range of 1–9 years.\"","defect":true,"group_name":"Deafness, adult-onset","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Schmutz (2014) provided data from Border Collies consistent with autosomal dominant inheritance, but could not rule out more than one locus being involved.","mondo_terms":[],"name":"","omia_group_id":1727,"omia_phene_id":3393,"omia_record_id":"OMIA:001727-9615","publication_ids":[112945,116332],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3393","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Lumbosacral junction, skeletal morphology and morphometry","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1729,"omia_phene_id":3396,"omia_record_id":"OMIA:001729-9615","publication_ids":[112954],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3396","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Dachshund, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200408"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lymphoma, generic","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1733,"omia_phene_id":3400,"omia_record_id":"OMIA:001733-9615","publication_ids":[112988,112989,114091,114223,115337,115533,116068,117021,117313,122428,122438,124200,124451,124462,124487,124551,125070,125101,125165,125956,126077,126514,126565,126577,126918,126970,127567,128063,128064,128125,129020,129225,129271,129354,129366,129371,129432,129503,129844,129943,130137,130589,130744,130757,131038,133001],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3400","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":true,"characterised_year":2013,"clinical_features":"","defect":false,"group_name":"Coat colour, white spotting, KIT-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"The white-spotting allele in this family of German Shepherds is autosomal dominant with respect to coat colour and recessive lethal with respect to viability (Wong et al., 2013).","mondo_terms":[],"name":"","omia_group_id":1737,"omia_phene_id":3405,"omia_record_id":"OMIA:001737-9615","publication_ids":[113015,113841],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3405","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Boston Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200204"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Miniature Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200893"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"}],"characterised":true,"characterised_year":2006,"clinical_features":"Cataract, defined as opacity of the lens, can be hereditary or nonhereditary. Clinical features include change in eye colour, pupil size, alteration in vision. Patients may be less aware of their surroundings due to reduced vision. In severe cataract cases, glaucoma can develop, causing pain and discomfort to the patient. Heritable cataracts are often categorised by marked breed specificity, age of onset, rate of progression, and the degree of bilateral symmetry (Mellersh et al., 2006). Mellersh et al. (2006) \"Primary HC in the Staffordshire Bull Terrier was first reported in the UK in 1976 [Barnett, 1978]. This cataract is bilateral, symmetrical in the two eyes, and progressive until total with resultant blindness [Patterson, 2000]. It is not congenital but appears at a few weeks to months in age, progressing to total by 2 to 3 years of age. The ophthalmoscopic and slit-lamp biomicroscopic appearance is of a central area of opacity with a number of small areas of denser opacity ... , initially with a clear cortex. Progression is bilaterally symmetrical, the cataract becoming mature between 2 and 3 years ... .\" [IT thanks DVM student Stephanie Chan for contributions to this entry in April 2022.]","defect":true,"group_name":"Cataract, early onset, HSF4-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Barnett (1978) reported single-locus autosomal recessive inheritance. The mode of inheritance is reported as 'co-dominant' in Australian shepherds: \"Dogs with one copy of the mutation develop bilateral posterior cataracts and homozygotes develop a nuclear cataract that typically progresses to a mature cataract\" (Genetics Committee of the American College of Veterinary Opthalmologists, 2021).","mondo_terms":[{"id":"MONDO:0007290","iri":"http://purl.obolibrary.org/obo/MONDO_0007290","label":"cataract 5 multiple types"}],"name":"Primary hereditary cataract","omia_group_id":1758,"omia_phene_id":3427,"omia_record_id":"OMIA:001758-9615","publication_ids":[90335,108072,108343,108705,109401,109402,109516,109808,113199,114091,115973,120017,124287,125219,126702,130234],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3427","source_release":"retrieved-2026-09-12","summary":"Other forms of inherited cataract have been been described in other breeds, for examples see '<a href=\"../../../../../../OMIA002536/9615/\">OMIA:002536-9615</a> - Cataract, FYCO1-related' and '<a href=\"../../../../../../OMIA000168/9615/\">OMIA:000168-9615</a> -Cataract, generic'.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Telomere length","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1761,"omia_phene_id":3433,"omia_record_id":"OMIA:001761-9615","publication_ids":[113339,113340,113341,113342,113343,126290],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3433","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Choanal atresia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1764,"omia_phene_id":3444,"omia_record_id":"OMIA:001764-9615","publication_ids":[113452,113455],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3444","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Scottish Deerhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201195"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Osteochondrodysplasia","inheritance":null,"inheritance_text":"Stevens (1999) provided evidence for autosomal recessive inheritance in Scottish deerhounds.","mondo_terms":[],"name":"Also known as pseudoachondroplastic dysplasia","omia_group_id":1315,"omia_phene_id":3447,"omia_record_id":"OMIA:001315-9615","publication_ids":[1275,111667,111668,111669,113471,113472,113473,113474],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3447","source_release":"retrieved-2026-09-12","summary":"For information on osteochondrodysplasia / pseudoachondroplastic dysplasia due to SLC13A1 variants (in Miniature Poodles) see OMIA 001400-9615 : Chondrodysplasia, SLC13A1-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Mammary tumour","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1777,"omia_phene_id":3462,"omia_record_id":"OMIA:001777-9615","publication_ids":[85564,108363,113609,114223,116654,116720,117085,118174,119241,122402,122831,124010,124070,124115,124211,124282,124464,124466,124495,124551,124668,124746,124867,124929,125017,125335,125414,125438,125717,125823,125991,126048,126114,126264,126286,126421,126500,126529,126530,126533,126660,126803,126988,127060,127083,127120,127529,127532,127563,127816,127826,128438,128516,128610,128662,128864,129001,129063,129092,129100,129365,129387,129425,129450,129548,129639,129664,129776,129784,130491,130820,131182,132152,132295,132341,132380,132498,132688,132689,132703,132905,132907,132922,132942,132973,132979,132983,133159,133218,133355,133366,133390,133468,133535,133558],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3462","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen (DEA) 3","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Previously known as Blood Group System B, or canine erythrocyte antigen (CEA) 3","omia_group_id":1779,"omia_phene_id":3464,"omia_record_id":"OMIA:001779-9615","publication_ids":[109207,109208,109209,113614,117153,121350,122970],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3464","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"As reported by Hale (1995): \"A dog possessing DEA 4 and no other antigen is considered a \"universal\" donors.\"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen (DEA) 4","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Previously known as Blood Group System C, or canine erythrocyte antigen (CEA) 4","omia_group_id":1780,"omia_phene_id":3465,"omia_record_id":"OMIA:001780-9615","publication_ids":[58787,109207,109208,109209,113612,113613,117147,117148,117153,120516,121350,122970,130462],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3465","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen (DEA) 5","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Previously known as Blood Group System D, or canine erythrocyte antigen (CEA) 5","omia_group_id":1781,"omia_phene_id":3466,"omia_record_id":"OMIA:001781-9615","publication_ids":[51198,109208,109209,120516,121350,122970],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3466","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen (DEA) 6","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Previously known as Blood Group System F, or canine erythrocyte antigen (CEA) 6","omia_group_id":1782,"omia_phene_id":3467,"omia_record_id":"OMIA:001782-9615","publication_ids":[121350,122970],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3467","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen (DEA) 7","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Previously known as Blood Group System Tr, or canine erythrocyte antigen (CEA) 7","omia_group_id":1783,"omia_phene_id":3468,"omia_record_id":"OMIA:001783-9615","publication_ids":[34311,58557,109207,109209,113613,117147,117148,117153,121350,122970],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3468","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen (DEA) 8","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Previously known as Blood Group System He, or canine erythrocyte antigen (CEA) 8","omia_group_id":1784,"omia_phene_id":3469,"omia_record_id":"OMIA:001784-9615","publication_ids":[113619,121350,122970],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3469","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system, rhesus","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1785,"omia_phene_id":3470,"omia_record_id":"OMIA:001785-9615","publication_ids":[113613,121350,122970],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3470","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2013,"clinical_features":"The SD2 phenotype is characterized by short legs with normal body length and width. In most cases the forelegs are slightly more affected than the hind legs. The international breed standard calls for shoulder heights of 56 cm–57 cm in male and 54 cm–56 cm in female Labrador Retrievers, respectively. The shoulder height in affected animals is reduced by ~6 cm on average. However, it must be noted that shoulder height is only an imperfect proxy for the SD2 phenotype as shoulder height is a complex trait with significant variance due to genetic and environmental factors. According to breeders' reports SD2-affected dogs are not particurlarly prone to secondary joint degeneration or any other health problems apart from the disproportionate dwarfism.","defect":true,"group_name":"Skeletal dysplasia 2, COL11A2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"SD2 is inherited as a monogenic autosomal recessive trait. However, as this mild form of disproportionate dwarfism is superimposed on the normal variation in height, it is sometimes very difficult to unambiguously determine the phenotype.","mondo_terms":[],"name":"Skeletal dysplasia 2","omia_group_id":1772,"omia_phene_id":3471,"omia_record_id":"OMIA:001772-9615","publication_ids":[113625],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3471","source_release":"retrieved-2026-09-12","summary":"Skeletal dysplasia 2 (SD2) is a mild form of disproportionate dwarfism in Labrador Retrievers. Affected dogs have short legs and their shoulder height is reduced by ~6 cm compared to non-affected dogs.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Komondor (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200779"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"}],"characterised":true,"characterised_year":2013,"clinical_features":"Signs begin around 6 to 12 weeks of age, and include failure to thrive and chronic inappetance. Affected animals also demonstrate neutropenia with hypersegmentation, nonregenerative anemia with anisocytosis and poikilocytosis, megaloblastic changes of the bone marrow, decreased serum Cbl concentrations, methylmalonic aciduria, and homocysteinemia. These animals have normal renal function, but low-molecular weight urinary protein excretion (Fyfe et al., 1991).","defect":true,"group_name":"Intestinal cobalamin (vitamin B12) malabsorption, CUBN-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1786,"omia_phene_id":3472,"omia_record_id":"OMIA:001786-9615","publication_ids":[23124,26273,87396,93465,107091,107815,110306,110447,110448,113706,113888,114306,114316,115049,115402,115424,115662,116840,118660,119921,120419,120973,130739,132624],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3472","source_release":"retrieved-2026-09-12","summary":"Intestinal cobalamin malabsorption is a metabolic disorder characterized by failure to thrive, neutropenia, decreased serum cobalamin (Cbl), and nonregenerative anemia. Other signs include chronic inappetance, megaloblastic changes of the bone marrow, methylmalonic aciduria, and homocysteinemia. This phenotype can be caused by either mutations in the AMN or CUBN genes (locus heterogeneity). See also <a href=\"../../../../../../OMIA001791/9615/\">OMIA:001791-9615</a>. Adapted from the corresponding entry by John Fyfe in [<a href=\"../../../../../../OMIA000565/9615/\">OMIA:000565-9615</a>].","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"}],"characterised":true,"characterised_year":2013,"clinical_features":"As summarised by Karyadi et al. (2013), SCCD is a \"locally aggressive cancer that causes lytic bone lesions, sometimes with multiple toe recurrence\".","defect":true,"group_name":"Squamous cell carcinoma of the digit","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1787,"omia_phene_id":3473,"omia_record_id":"OMIA:001787-9615","publication_ids":[113630,113631,113632,113633,113634,113635,113636,113637,113638,116051,117347,124285,124286,127618],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3473","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2018,"clinical_features":"","defect":true,"group_name":"Leukoencephalomyelopathy, NAPEPLD-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1788,"omia_phene_id":3474,"omia_record_id":"OMIA:001788-9615","publication_ids":[113640,113641,113642,113643,113644,113645,113646,117712,117990,117991,117992,125653,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3474","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chondrodysplasia, Labrador","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"A segregation analysis conducted by Smit et al. (2011) provided evidence for autosomal recessive inheritance. ","mondo_terms":[],"name":"","omia_group_id":1790,"omia_phene_id":3477,"omia_record_id":"OMIA:001790-9615","publication_ids":[109831],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3477","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Selective ADP deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1792,"omia_phene_id":3479,"omia_record_id":"OMIA:001792-9615","publication_ids":[113686,125867],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3479","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Niemann-Pick disease, type A","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009756","iri":"http://purl.obolibrary.org/obo/MONDO_0009756","label":"Niemann-Pick disease type A"}],"name":"","omia_group_id":1795,"omia_phene_id":3494,"omia_record_id":"OMIA:001795-9615","publication_ids":[4247],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3494","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myopathy, congenital, with fibre-type disproportion","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1796,"omia_phene_id":3499,"omia_record_id":"OMIA:001796-9615","publication_ids":[113794],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3499","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Mast cell tumour","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1797,"omia_phene_id":3500,"omia_record_id":"OMIA:001797-9615","publication_ids":[113812,114091,114223,116827,118875,119018,119492,122438,122458,123690,123691,124173,124542,124849,124949,125009,125012,125072,125317,125378,125425,125764,126854,127179,127447,127512,128595,128922,129057,129421,130088,130527,130620,130882,132201,132482,132487,132558,132874,133077,133370],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3500","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Endocardial fibroelastosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1803,"omia_phene_id":3507,"omia_record_id":"OMIA:001803-9615","publication_ids":[113844,113845,113851,113854,113855],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3507","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ocular melanosis","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Peterson-Jones et al. (2007) provided evidence of autosomal dominant inheritance in Cairn Terriers.","mondo_terms":[],"name":"","omia_group_id":1804,"omia_phene_id":3510,"omia_record_id":"OMIA:001804-9615","publication_ids":[113861,113862,113863,113864,124396,125219,126878,128276,128664,128665,132800],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3510","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Intestinal cobalamin (vitamin B12) malabsorption, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1791,"omia_phene_id":3511,"omia_record_id":"OMIA:001791-9615","publication_ids":[109400,110305,113887,113889,113890,113891,113892,114249,114845,116036,120419],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3511","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"},{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"}],"characterised":true,"characterised_year":2013,"clinical_features":"For Italian Greyhounds, the clinical signs as reported by Gandolfi et al. (2013) are \"A brownish mottling and roughening of teeth is apparent in areas where enamel is thin or absent . . . . Affected permanent teeth are often small and pointed compared with normal teeth . . . . Greater than normal gaps between teeth are often noticeable in young dogs and become more apparent with age due to premature enamel wear\".","defect":true,"group_name":"Amelogenesis imperfecta, ENAM-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008770","iri":"http://purl.obolibrary.org/obo/MONDO_0008770","label":"amelogenesis imperfecta type 1C"}],"name":"","omia_group_id":1805,"omia_phene_id":3512,"omia_record_id":"OMIA:001805-9615","publication_ids":[113898,113899,117862,118657,118813,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3512","source_release":"retrieved-2026-09-12","summary":"Also known as Enamel hypoplasia.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"}],"characterised":true,"characterised_year":2021,"clinical_features":"","defect":false,"group_name":"Coat colour, saddle tan vs black-and-tan","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Dreger et al. (2013) provided data that enabled them to conclude that \"it appeared that the black-and-tan pattern is recessive to saddle tan\".","mondo_terms":[],"name":"","omia_group_id":1806,"omia_phene_id":3513,"omia_record_id":"OMIA:001806-9615","publication_ids":[113910,120501,121377,121985,123917],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3513","source_release":"retrieved-2026-09-12","summary":"Dreger et al. (2013) identified a duplication in an intron of the RALY gene encoding hnRNP associated with lethal yellow that discriminated black-and-tan and saddle tan Basset Hounds and Pembroke Welsh Corgis. The RALY gene is located upstream of ASIP and the intronic duplication is in linkage disequilibrium with the likely causal variant in the ventral promoter of ASIP identified by Bannasch et al. (2021). For more detail on the likely causal variant in the ASIP promoter see OMIA 000201-9615 : Coat colour, agouti in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Alopecia areata","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1702,"omia_phene_id":3514,"omia_record_id":"OMIA:001702-9615","publication_ids":[106296,107469,113921,113922,116820,128470,130649],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3514","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pulmonary fibrosis, idiopathic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1417,"omia_phene_id":3519,"omia_record_id":"OMIA:001417-9615","publication_ids":[87817,114005,114006,114007,114008,114009,114011,114013,114014,114015,115027,115269,115408,115511,119031,120763,128191,130992,132261,132321],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3519","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Leishmaniasis, susceptibility/resistance to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1807,"omia_phene_id":3520,"omia_record_id":"OMIA:001807-9615","publication_ids":[114072,114073,116704,117173,117782,123568,124666],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3520","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Italian Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200713"},{"name":"Poodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201048"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Multiple autoimmune diseases syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1808,"omia_phene_id":3521,"omia_record_id":"OMIA:001808-9615","publication_ids":[114075,123758],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3521","source_release":"retrieved-2026-09-12","summary":"see also \"OMIA 001179-9615 : Polyglandular autoimmune syndrome, type II in Canis lupus familiaris\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Leg morphology (leg width versus leg length)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1809,"omia_phene_id":3522,"omia_record_id":"OMIA:001809-9615","publication_ids":[114077,114078,114079],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3522","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Ears, folded (drop vs prick)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Floppy ears versus erect ears; drop ears versus prick ears","omia_group_id":319,"omia_phene_id":3523,"omia_record_id":"OMIA:000319-9615","publication_ids":[108432,114081,114090,116423,119334,120501,125979,128265,129522],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3523","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Beta blocker response in heart failure","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1810,"omia_phene_id":3524,"omia_record_id":"OMIA:001810-9615","publication_ids":[114088],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3524","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Tail, curl (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"see OMIA002186-9615 Screw tail","omia_group_id":1811,"omia_phene_id":3525,"omia_record_id":"OMIA:001811-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3525","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemangiosarcoma","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1813,"omia_phene_id":3527,"omia_record_id":"OMIA:001813-9615","publication_ids":[114091,114111,114112,114113,114119,114120,114123,114126,114131,114132,114134,114136,114139,114140,114141,114143,114144,114146,114147,114148,114150,114151,114153,114223,114638,114648,114709,114954,115532,116459,116833,117252,121579,121892,122402,124667,124712,125165,125222,125343,125738,125895,126513,126544,126556,129168,129913,130081,132458,132487],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3527","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hydranencephaly","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":486,"omia_phene_id":3536,"omia_record_id":"OMIA:000486-9615","publication_ids":[114168],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3536","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Japanese Chin (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200735"}],"characterised":true,"characterised_year":2013,"clinical_features":"","defect":true,"group_name":"Gangliosidosis, GM2, type I (B variant)","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Gangliosidosis, GM2, type I","omia_group_id":1461,"omia_phene_id":3539,"omia_record_id":"OMIA:001461-9615","publication_ids":[107740,107741,114193,115492,116959],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3539","source_release":"retrieved-2026-09-12","summary":"GM2 gangliosidos is a fatal lysosomal storage disease caused by a deficiency of β-hexosaminidase (EC 3.2.1.52). There are two major isoforms of the enzyme: hexosaminidase A composed of an α and a β subunit (encoded by HEXA and HEXB genes, respectively); and, hexosaminidase B composed of two β subunits. Hexosaminidase A requires an activator protein encoded by GM2A to catabolize GM2 ganglioside, but even in the absence of the activator protein, it can hydrolyze the synthetic substrates commonly used to assess enzyme activity. Mutations in the HEXA gene cause type I (or \"type B\") GM2 gangliosidosis, also called Tay-Sachs disease in humans. In dogs the age of onset is between 1 and 2 years and affected dogs exhibit progressive cerebellar ataxia, altered mental status and vision deficits. The disease is progressive and leads to death or requires euthanasia within a few months.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"}],"characterised":true,"characterised_year":2013,"clinical_features":"The clinics and pathology of \"hereditary ataxia\" in Jack Russell and Parson Russell Terriers were mostly studied before the different causative variants in CAPN1 (this entry) and KCNJ10 (see the related entry 002089-9615) were identified. It is therefore not fully clear which genetic form of ataxia was investigated in the earlier publications. It is likely that there are even more genetically distinct forms of ataxia present in Russell group terriers. The CAPN1 form of this disease manifests as a slowly progressing pelvic limb incoordination, with an onset usually at 2 to 9 months of age. As the disease progresses a characteristic “dancing” or “prancing” gait is displayed, especially affecting the pelvic limbs. The age at onset of Parson Russell Terrier cases that were used to identify the CAPN1:p.Cys115Tyr variant ranged between 7-12 months. (Forman et al. 2013). The supplementary video S1 in this publication illustrates the clinical phenotype.","defect":true,"group_name":"Ataxia, spinocerebellar, CAPN1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014827","iri":"http://purl.obolibrary.org/obo/MONDO_0014827","label":"autosomal recessive spastic paraplegia type 76"}],"name":"spinocerebellar ataxia, hereditary ataxia","omia_group_id":1820,"omia_phene_id":3545,"omia_record_id":"OMIA:001820-9615","publication_ids":[6358,26046,44102,107373,114212,115688,115689,115690,115691,117455,117456,118393,120017,125285,126199,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3545","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the CAPN1 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus locus heterogeneity for this phenotype must be considered.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Sapsari (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201177"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pentalogy of Fallot","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1857,"omia_phene_id":3589,"omia_record_id":"OMIA:001857-9615","publication_ids":[114332],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3589","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Affenpinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200003"},{"name":"Brussels Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200241"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200765"}],"characterised":false,"characterised_year":null,"clinical_features":"Neurological exams may reveal neuropathic pain, weakness and proprioceptive deficits. Reported signs of neuropathic pain include vocalisation, reduced activity, touch aversion and sleep disturbance (Rusbridge, 2020). This is often seen in dogs with more extreme brachycephaly. Common syringomyelia-specific signs include “phantom scratching, scoliosis and sensory and motor signs” (Rusbridge, 2020). Localisation of the neurological signs are consistent with the syrinx location. However, these are only observed in dogs with large syrinxes ≥ 4mm in transverse width. The signs can be intermittent and are often exacerbated during periods of excitement, stress or tactile stimulus like contact by a neck collar (Hechler and Moore, 2018). [IT thanks DVM student Grace Zheng, who provided the basis of this contribution in April 2022.]","defect":true,"group_name":"Chiari malformation Type I with syringomyelia","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"The disease is also called Arnold Chiari malformation; caudal occipital \r\nmalformation syndrome; occipital hypoplasia; hindbrain \r\nherniation; Chiari-like malformation","omia_group_id":1861,"omia_phene_id":3597,"omia_record_id":"OMIA:001861-9615","publication_ids":[90730,108517,108521,108522,108529,108952,108953,108956,112448,114362,114363,114364,114365,114366,114367,114368,114619,115582,115583,116430,116431,116432,116433,116434,116435,116436,116919,117485,117518,118022,118095,118899,120797,120798,123330,123331,123332,123333,123334,125077,125580,126138,126593,126901,126924,127023,128231,129229,129444,129821,129824,129867,130394,130701,132635,133173,133318,133357],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3597","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Medial coronoid disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"see also 'OMIA 001167-9615 : Fragmented coronoid process in Canis lupus familiaris'","omia_group_id":1863,"omia_phene_id":3599,"omia_record_id":"OMIA:001863-9615","publication_ids":[114407,114687],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3599","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Gordon Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200613"}],"characterised":false,"characterised_year":null,"clinical_features":"Yaeger et al. (2000) summarised the diagnostic criteria as:\r\n\"a) early age of onset (3–4 weeks of age),\r\nb) characteristic clinical signs (pups exhibit crooked necks and carry heads low, stiffened posture, and staggering gait; appear blind; begin to cry, often incessantly; lose muscle tone and the ability to stand),\r\nc) progression to recumbency by 5–6 weeks of age,\r\nd) multiple pups generally affected in each litter, \r\ne) identification of swollen astrocytes primarily in the cerebellar and cerebrocortical white matter and white matter tracts of the brainstem,\r\nf) identification of increased numbers of GFAP-stained astrocyte cytoplasmic processes (this lesion is most readily visualized in the cortical white matter and granular layer of the cerebellum), and\r\ng) exclusion of other disease processes.\"","defect":true,"group_name":"Neurological syndrome","inheritance":{"code":"RL","name":"Autosomal recessive lethal"},"inheritance_text":"Yaeger et al. (2000) provided convincing evidence of autosomal recessive inheritance.","mondo_terms":[],"name":"","omia_group_id":720,"omia_phene_id":3601,"omia_record_id":"OMIA:000720-9615","publication_ids":[114452],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3601","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chesapeake Bay Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200326"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2012,"clinical_features":"As reported by Olivry et al. (2012), \"In all affected dogs, clinical signs occurred immediately after birth with spontaneous sloughing of the nose and footpad epithelium and bleeding of the ear tips if traumatized. Within 48 hours of birth, the lips and facial superficial skin layers also sloughed when rubbed dry or licked by the mother. Three dogs were kept alive by their breeder for three months; all exhibited waxing and waning superficial skin sloughing with erosions and fissures at areas of friction (axillae, groin, caudal tarsi, footpads), concave ear pinnae and mucocutaneous junctions (nasal planum, philtrum, lips, periocular area)\".","defect":true,"group_name":"Ectodermal dysplasia/skin fragility syndrome, PKP1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"The results of a pedigree analysis conducted by Olivry et al. (2012) were \"most consistent with an autosomal recessive mode of inheritance\".","mondo_terms":[{"id":"MONDO:0011472","iri":"http://purl.obolibrary.org/obo/MONDO_0011472","label":"epidermolysis bullosa simplex due to plakophilin deficiency"}],"name":"","omia_group_id":1864,"omia_phene_id":3603,"omia_record_id":"OMIA:001864-9615","publication_ids":[114552,123125],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3603","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"White Swiss Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201423"}],"characterised":true,"characterised_year":2023,"clinical_features":"Littlejohn et al. (2023): Two affected White Swiss Shepherd \"puppies were born clinically normal ... . Both [cerebellar hypoplasia] CH-affected puppies failed to gain weight and developed progressive ataxia from around 2 weeks of age. The puppies had difficulty standing, could not walk in a straight line, had a good suckle reflex but had difficulty latching on to the teat. The puppies had no spontaneous or positional nystagmus, had a normal pupillary light reflex, lacked a menace reflex (normal for age) and segmental spinal reflexes were intact. ... the puppies were euthanised at 4 weeks of age ... .\"","defect":true,"group_name":"Lissencephaly and cerebellar hypoplasia, RELN-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009760","iri":"http://purl.obolibrary.org/obo/MONDO_0009760","label":"Norman-Roberts syndrome"}],"name":"Cerebellar hypoplasia","omia_group_id":1867,"omia_phene_id":3610,"omia_record_id":"OMIA:001867-9615","publication_ids":[125273,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3610","source_release":"retrieved-2026-09-12","summary":"References to other forms of lissencephaly were previously listed here but have been moved to OMIA:002771-9615 : Lissencephaly, generic in Canis lupus familiaris [22/09/2023]","taxon_id":9615,"upheno_terms":[{"id":"HP:0001339","iri":"http://purl.obolibrary.org/obo/HP_0001339","label":"Lissencephaly"},{"id":"MP:0000825","iri":"http://purl.obolibrary.org/obo/MP_0000825","label":"dilated lateral ventricle"},{"id":"MP:0000829","iri":"http://purl.obolibrary.org/obo/MP_0000829","label":"dilated fourth ventricle"},{"id":"MP:0001393","iri":"http://purl.obolibrary.org/obo/MP_0001393","label":"ataxia"},{"id":"MP:0001436","iri":"http://purl.obolibrary.org/obo/MP_0001436","label":"abnormal suckling behavior"},{"id":"MP:0002083","iri":"http://purl.obolibrary.org/obo/MP_0002083","label":"premature death"},{"id":"MP:0004845","iri":"http://purl.obolibrary.org/obo/MP_0004845","label":"absent vestibuloocular reflex"},{"id":"MP:0008489","iri":"http://purl.obolibrary.org/obo/MP_0008489","label":"slow postnatal weight gain"},{"id":"MP:0020829","iri":"http://purl.obolibrary.org/obo/MP_0020829","label":"abnormal forebrain tissue architecture"},{"id":"UPHENO:0081099","iri":"http://purl.obolibrary.org/obo/UPHENO_0081099","label":"cerebellum hypoplasia"}]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Stenosis, spinal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":947,"omia_phene_id":3616,"omia_record_id":"OMIA:000947-9615","publication_ids":[114669],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3616","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"}],"characterised":true,"characterised_year":2011,"clinical_features":"","defect":true,"group_name":"Glaucoma, primary open angle, ADAMTS10-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"From a colony of Beagles with POAG, established in 1972 (Gelatt, 1972; Gelatt et al., 1977), Gelatt and Gum (1981) provided substantial evidence of autosomal recessive inheritance.","mondo_terms":[],"name":"Primary open angle glaucoma","omia_group_id":1870,"omia_phene_id":3628,"omia_record_id":"OMIA:001870-9615","publication_ids":[2159,3204,56158,108362,109395,113364,113860,113865,113869,113882,113883,116664,116665,116667,116789,116821,117009,118018,124295,125215,125216,125217,125218,125219,125250,125653,126598,127712,127792,129268],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3628","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Dandie Dinmont Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200429"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glaucoma, primary closed-angle","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1871,"omia_phene_id":3629,"omia_record_id":"OMIA:001871-9615","publication_ids":[114736,114927,116023,116024,116665,116789,117009,119969,122526,122993,123810,123851,125219,130093,132328,132451],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3629","source_release":"retrieved-2026-09-12","summary":"This disorder in Dandie Dinmont Terriers was first described by Ahonen et al. (2013). Several studies investigated the condition in Basset Hounds (Ahram et al.,2014, 2015; Oliver et al., 2019). Park et al. (2022) reported that \"the American Cocker Spaniel (ACS) is among the most common breeds observed with PACG [primary angle closure glaucoma] development in dogs.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Nederlandse Kooikerhondje (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200932"},{"name":"Vizsla (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201389"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polymyositis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1874,"omia_phene_id":3634,"omia_record_id":"OMIA:001874-9615","publication_ids":[114843,124915,128354,129011,130164],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3634","source_release":"retrieved-2026-09-12","summary":"Opmeer et al. (2025): \"Polymyositis in the breed of ... Kooiker dogs is an autoimmune mediated inflammatory disease of skeletal muscles [with familial occurence].\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basenji (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200120"}],"characterised":true,"characterised_year":2013,"clinical_features":"While there are multiple types of progressive retinal atrophy (PRA), Basenjis generally obtain late onset PRA (Goldstein et al., 2013). Initially, affected individuals lose their vision in dim light and lose their peripheral visual field, resulting in tunnel vision. Many individuals can maintain forward day vision for years as disease progresses (Goldstein et al., 2013). Retinal thinning (stage I) can typically be detected at five years old, and reduced blood flow through retinal vasculature (stage II) is normally detected around seven years of age (Goldstein et al., 2013). IT thanks DVM student Maya Yaffe, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Retinal atrophy, progressive, SAG-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"The mating results of Goldstein et al. (2006) suggested autosomal recessive inheritance.","mondo_terms":[],"name":"","omia_group_id":1876,"omia_phene_id":3638,"omia_record_id":"OMIA:001876-9615","publication_ids":[111396,114880,125219,125259,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3638","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":false,"characterised_year":null,"clinical_features":"Rosser (2006): \"The most common lesion initially observed in cases of GSP is clinically similar to that of a “hot spot” and is usually first noticed in the lumbosacral region, lateral hip, or lateral thigh region ... . As the disease progresses, several additional lesions may be observed, including areas of posttraumatic alopecia, hyperpigmentation, papules, pustules, hemorrhagic bullae, ulcers, crusts, and draining tracts (usually with a hemopurulent discharge) with surrounding friable tissue. The disease ultimately takes on the appearance of chronic deep pyoderma or cellulitis, and there is frequently an associated regional lymphadenopathy. Less commonly observed clinical signs may include a purulent otitis externa, perianal fistulas, focal metatarsal fistulas (sterile pedal panniculitis), and fever with signs of systemic illness [Denerolle et al., 1998; Rosser 1997; Ihrke & DeManuelle, 1999].\"","defect":true,"group_name":"Pyoderma","inheritance":null,"inheritance_text":"Wisselink et al. (1989) presented pedigree data and claimed autosomal recessive inheritance, but did not actually conduct a segregation analysis. \r\nRosser (2006): \"Although dogs with GSP may have clinically similar presentations, the underlying causes of the disease process can be multifactorial in etiology. ... [P]urebred German Shepherd Dogs are predisposed to the development of this disease, but it is important to note that a similar condition may occur in German Shepherd crossbred dogs and other herding breeds of dogs ...\"","mondo_terms":[],"name":"German Shepherd dog pyoderma","omia_group_id":1877,"omia_phene_id":3639,"omia_record_id":"OMIA:001877-9615","publication_ids":[114881,114882,114883,114884,114885,114886,114887,114888,114889,114890,114891,115421,122645,123274,123275,123276,123277,123278,124403,129963],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3639","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"}],"characterised":true,"characterised_year":2013,"clinical_features":"As summarised by Brons et al. (2013), cystinuria type II - A is characterised by: present in males and females; not androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≥8,000 in homozygotes and ≥3,000 in heterozygotes.","defect":true,"group_name":"Cystinuria, type II - A","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Brons et al. (2013) provided evidence consistent with autosomal dominant inheritance.","mondo_terms":[],"name":"Cystine urolithiasis","omia_group_id":1879,"omia_phene_id":3641,"omia_record_id":"OMIA:001879-9615","publication_ids":[114893,123132,123322,129822],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3641","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Miniature Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200893"}],"characterised":true,"characterised_year":2013,"clinical_features":"As summarised by Brons et al. (2013), cystinuria type II - B is characterised by: occurs in males and females; not androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≥ 700 in heterozygotes.","defect":true,"group_name":"Cystinuria, type II - B","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Brons et al. (2013) provided evidence consistent with autosomal dominant inheritance.","mondo_terms":[],"name":"Cystine urolithiasis","omia_group_id":1880,"omia_phene_id":3642,"omia_record_id":"OMIA:001880-9615","publication_ids":[110471,114893,123132,123322,124480,124481,129822],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3642","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Irish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200704"},{"name":"Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200867"},{"name":"Scottish Deerhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201195"}],"characterised":false,"characterised_year":null,"clinical_features":"As summarised by Brons et al. (2013) cystinuria type III is characterised by: present only in males; androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≤4,000 in homozygotes.","defect":true,"group_name":"Cystinuria, type III","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Cystine urolithiasis","omia_group_id":1881,"omia_phene_id":3643,"omia_record_id":"OMIA:001881-9615","publication_ids":[85144,114893,123132,123322,129822],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3643","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Attention deficit hyperactivity disorder","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Activity, impulsivity and inattention","omia_group_id":1882,"omia_phene_id":3647,"omia_record_id":"OMIA:001882-9615","publication_ids":[114243,114906,114907,114908,114909],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3647","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chinook (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200353"},{"name":"Karelian Bear Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200754"},{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"}],"characterised":true,"characterised_year":2013,"clinical_features":"As reported by Bingel and Sande (1982): \"Radiographic changes included flaring and increased width of the distal metaphyses of the radius and ulna, delayed ossification of the cuboid bones of the carpus, and reduction in length of the vertebral bodies. The zone of chondrocyte proliferation was decreased in width and contained areas of abnormal cell column formation alternated with wide areas of matrix. Chondrocytes in all zones contained one or more inclusions bounded by a smooth discontinuous membrane. The material within the inclusions appeared homogeneous and stained blue-green with Movat's pentachrome and deep blue with alcian blue-periodic acid-Schiff at pH 1.0 and 2.6. The distribution of ruthenium red granules in the matrix frequently revealed poor differentiation into territorial and interterritorial zones\".","defect":true,"group_name":"Chondrodysplasia, disproportionate short-limbed, ITGA10-related'","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Kyöstilä et al. (2013) provided strong evidence of autosomal recessive inheritance.","mondo_terms":[],"name":"","omia_group_id":1886,"omia_phene_id":3653,"omia_record_id":"OMIA:001886-9615","publication_ids":[4589,115012,116893,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3653","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Entlebucher Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200503"}],"characterised":false,"characterised_year":null,"clinical_features":"Ectopic ureter (EU) is a congenital malformation where one or both ureters enter the bladder in an abnormal anatomical position, outside of the trigone area. The ureters enter on the bladder neck, urethra, uterus or vagina (Reichler et al., 2012). Ectopic ureters can be classified in intramural and extramural, depending on if they  bypass  the  bladder  or  not.  The  extramural  EU  bypasses  the  bladder  completely  and  opens  into  the possible abnormal anatomical structures, while the intramural enters the bladder wall in the correct anatomic position  (trigone  area)  but  extends  within  the  bladder  to  then  open  into  an  abnormal  position.  Urinary incontinence is the most common clinical sign of EU and affected dogs often present at a very young age (Koie et al., 2000), with males also commonly showing signs of urinary incontinence at a more advanced age (Holt and Moore, 1995). Diagnosis of EU is best achieved by different imaging methods such as intravenous urography and ultrasonography (Lamb and Gregory, 1998; Koie et al., 2000; Taylor et al., 2022). Treatment involves surgical reposition of ectopic ureter into the bladder and medication for incontinence when needed (Koie et al., 2000). [IT thanks DVM student Ginady Martinez Casiano, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Ectopic ureter","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"From records of 1611 Entlebucher Mountain Dogs, Fritsche et al. (2013) estimated heritability of this disorder to be 65%, with some evidence of involvement of a gene of large effect.","mondo_terms":[],"name":"","omia_group_id":1891,"omia_phene_id":3660,"omia_record_id":"OMIA:001891-9615","publication_ids":[115197,115198,115199,115200,115201,115202,115203,115204,115205,115206,115207,115209,115210,115211,115212,115213,115214,115215,115216,115217,115218,115219,115220,115221,115222,115223,115224,115225,115226,115227,115228,115229,115520,115975,118188,123376,123377,123378,123379,123380,123381,123382,123383,123384,123385,123386,123417,129529],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3660","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"XY difference of sexual development, generic","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0020040","iri":"http://purl.obolibrary.org/obo/MONDO_0020040","label":"46,XY disorder of sex development"}],"name":"","omia_group_id":1601,"omia_phene_id":3662,"omia_record_id":"OMIA:001601-9615","publication_ids":[110751,115239,119166,119912,122464,122638,123311,125935,129245],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3662","source_release":"retrieved-2026-09-12","summary":"Information relating to differences in sexual development due to variants in the HSD17B3 previously listed here have been moved to OMIA:002777-9615 : XY difference of sexual development, HSD17B3-related in Canis lupus familiaris [28/09/2023].","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Norwich Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200962"}],"characterised":true,"characterised_year":2019,"clinical_features":"Norwich terriers with upper airway obstructive syndrome have normal nasal passages and nostrils. Affected dogs main anatomical abnormalities consisted of mildly elongated soft palates, additional dorsal pharyngeal tissue with elimination of piriform recesses, abnormal laryngeal mucosa, abnormal cuneiform and or corniculate processes, partially or full everted ventricles (saccules) and abnormal keyhole shape to the lower larynx. These changes manifest as respiratory signs of varying severities. Mildly affected dogs have owner reports of intermitted stridor (snoring) or stertor (wheezing). Dogs which are severely affected have been reported to experience severe respiratory distress, collapse and asphyxiation. (Johnson et al., 2013; Marchant et al., 2019)\r\nIT thanks DVM student Amy Garber, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Upper airway syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"upper airway obstructive syndrome; upper respiratory tract (URT) disorder","omia_group_id":1893,"omia_phene_id":3665,"omia_record_id":"OMIA:001893-9615","publication_ids":[115246,119190,125036,125109],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3665","source_release":"retrieved-2026-09-12","summary":"For upper airway obstructive syndrome in brachycephalic dog breeds see also:  OMIA:000145-9615 : Brachycephalic obstructive airway syndrome in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Borzoi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200197"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200867"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cervical vertebral compressive myelopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Cervical spondylomyelopathy; wobbler syndrome","omia_group_id":1894,"omia_phene_id":3671,"omia_record_id":"OMIA:001894-9615","publication_ids":[3071,8560,20130,32370,35016,48058,51296,51492,54525,58132,64304,80463,88382,90644,100527,109660,109679,115885,125165,127162,127287,128012],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3671","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Gordon Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200613"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"}],"characterised":true,"characterised_year":2014,"clinical_features":"\"The clinical phenotype is identical in both breeds [Old English Sheepdogs and Gordon Setters] with an onset of cerebellar ataxia first noted in juvenile to young adult dogs aged from six months to four years. Dogs develop pronounced hypermetria, a truncal sway and intention tremor, and signs progress to cause severe gait disturbances. Cerebellar atrophy can be identified by magnetic resonance imaging (MRI)\" (Agler et al. 2014)<br>Schwarz et al. (2025) reported two affected mixed breed dogs \"with clinical signs of progressive cerebellar ataxia, hypermetria, and absent menace response. The MRI revealed generalized brain atrophy, reduced cortical demarcation, hypoplastic corpus callosum, and cerebellar folia thinning ... .\"","defect":true,"group_name":"Ataxia, cerebellar, juvenile to adolescent, RAB24-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Canine hereditary ataxia","omia_group_id":1913,"omia_phene_id":3699,"omia_record_id":"OMIA:001913-9615","publication_ids":[1588,1833,93880,115473,115474,115475,125285,128324,130565],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3699","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the RAB24 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus locus heterogeneity for this phenotype must be considered.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Muscular dystrophy, Becker type","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010311","iri":"http://purl.obolibrary.org/obo/MONDO_0010311","label":"Becker muscular dystrophy"}],"name":"","omia_group_id":1888,"omia_phene_id":3701,"omia_record_id":"OMIA:001888-9615","publication_ids":[115544],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3701","source_release":"retrieved-2026-09-12","summary":"All likely causal variants for X-linked muscular dystrophy due to variants in the DMD gene are listed under&nbsp;<a href=\"https://www.omia.org/OMIA001081/9615/\">OMIA:001081-9615</a> : Muscular dystrophy, Duchenne type in Canis lupus familiaris (dog).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bull Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200253"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Lhasa Apso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200824"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"}],"characterised":true,"characterised_year":2014,"clinical_features":"Dogs with oculocutaneous albinism type IV have white (cream) coat coloration, blue eyes (iris), pink nose and lips, hypopigmented adnexal structures (eyelid margins, nictitating membrane margins, and cilia), and hypopigmented retinal pigment epithelium and choroid (Winkler et al., 2014). Dogs may also present with photophobia and vision defects (Winkler et al., 2014). Additionally, exposure of the hypopigmented skin to ultraviolet radiation may result in cutaneous melanocytic neoplasms and/or ocular masses (Caduff et al., 2017; Winkler et al., 2014). IT thanks DVM student Arpan Mann, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Coat colour, albinism, oculocutaneous type IV","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"As reported by Winkler et al. (2014), \"A research study conducted by the DPCA [Doberman Pincher Club of America] concluded an autosomal recessive mode of inheritance (http://dpca.org/BreedEd/index.php/articles/44-history/381-albinism-science)\".","mondo_terms":[{"id":"MONDO:0011683","iri":"http://purl.obolibrary.org/obo/MONDO_0011683","label":"oculocutaneous albinism type 4"}],"name":"White Doberman Pinscher","omia_group_id":1821,"omia_phene_id":3703,"omia_record_id":"OMIA:001821-9615","publication_ids":[115554,115921,117706,122792,123125,124017,125165,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3703","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"}],"characterised":true,"characterised_year":2014,"clinical_features":"As summarised by Ekenstedt et al. (2014), this disorder in the Leonberger breed \"is characterized by generalized weakness, hypotonia, and muscle atrophy secondary to denervation, particularly of the pelvic limbs . . . . Affected dogs frequently present with a high-stepping pelvic limb gait (pseudo-hypermetria of the hock) . . . , decreased or absent tendon reflexes, and changes associated with degeneration of the recurrent laryngeal nerve, including inspiratory stridor resulting from laryngeal paralysis. The age-of-onset of clinical signs can vary from <1 year up to 11 years of age; however, the juvenile-onset patients typically have a more severe and rapidly progressing course of disease. Peroneal nerve biopsies show decreased myelinated fiber density resulting from axonal degeneration and endoneurial fibrosis indicative of chronic nerve fiber loss. Cranial tibial muscle biopsies demonstrate neurogenic atrophy and fatty replacement of muscle fibers indicative of chronic denervation\".","defect":true,"group_name":"Polyneuropathy, ARHGEF10-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"polyneuropathy","omia_group_id":1917,"omia_phene_id":3705,"omia_record_id":"OMIA:001917-9615","publication_ids":[104113,109480,115770,115771,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3705","source_release":"retrieved-2026-09-12","summary":"An inherited polyneuropathy (PN) observed in Leonberger and Saint Bernard dogs has clinical similarities to a genetically heterogeneous group of peripheral neuropathies termed Charcot-Marie-Tooth (CMT) disease in humans. The disorder is a severe, juvenile-onset, chronic, progressive, and mixed PN, characterized by exercise intolerance, gait abnormalities and muscle atrophy of the pelvic limbs, as well as inspiratory stridor and dyspnea.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200496"},{"name":"Tibetan Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201352"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"}],"characterised":true,"characterised_year":2014,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, FAM161A-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Bjerkas and Narfstrom (1994) reported data supporting autosomal recessive inheritance.","mondo_terms":[{"id":"MONDO:0011630","iri":"http://purl.obolibrary.org/obo/MONDO_0011630","label":"retinitis pigmentosa 28"}],"name":"Progressive retinal atrophy 3, PRA3 (Tibetan Terrier); Progressive retinal atrophy 6, PRA6 (English Shepherd)","omia_group_id":1918,"omia_phene_id":3706,"omia_record_id":"OMIA:001918-9615","publication_ids":[7814,47764,108335,115558,115559,116380,127921,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3706","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"}],"characterised":true,"characterised_year":2014,"clinical_features":"As reported by Wolf et al. (2014), this syndrome is best summarised as \"relative mandibular brachygnathia and cleft palate\". As detailed by the same authors, in the syndrome specified as CP1 \"clefts were characterized by abnormal or missing palatine fissures, missing or small palatine processes of the maxilla, and small, missing, or abnormally shaped palatine bones . . .  The nasal septum was absent or poorly developed. . . .variation from the normal angulation of the condylar process [of mandibles] was observed\". These same authors also reported that \"CP1 NSDTRs [Nova Scotia Duck Tolling Retrievers] had relatively shorter mandibles by an average of 5.46 mm when compared to the normal NSDTRs\".","defect":true,"group_name":"Cleft palate 1, DLX6-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Palatoschisis","omia_group_id":1919,"omia_phene_id":3707,"omia_record_id":"OMIA:001919-9615","publication_ids":[115569,117705,123356,123357],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3707","source_release":"retrieved-2026-09-12","summary":"See 'OMIA:001140-9615 : Cleft lip with or without cleft palate, ADAMTS20-related' for a different form of clef palate in Nova Scotia Duck Tolling retrievers.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Spinal intradural arachnoid diverticulum","inheritance":null,"inheritance_text":"Rohdin et al. (2014) reported that \"Seven related young pugs were diagnosed with cervical spinal intradural arachnoid cysts by magnetic resonance imaging (n=6) and myelography (n=1)\" and that \"Pedigree analysis suggested a genetic predisposition for spinal arachnoid cysts in this family of pugs\"","mondo_terms":[],"name":"","omia_group_id":1923,"omia_phene_id":3714,"omia_record_id":"OMIA:001923-9615","publication_ids":[115652,117954,124275,127185,127186,127188,127189,127190,127191,127287,129157,133350],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3714","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2014,"clinical_features":"Affected puppies present with a history of generalised skeletal muscle weakness and fatigue with an onset in the first weeks to months of life (Mignan et al., 2020). As reported by Rinz et al. (2014): \"Neurological examination was consistent with a generalized neuromuscular disease with marked short-strided tetraparesis that worsened with exercise. Postural reactions were preserved with the exception of hopping which was diminished in all limbs when the puppies were made to bear full weight. Spinal reflexes including the patellar, cranial tibial, and flexor withdrawals were reduced in all limbs. A pyridostigmine bromide challenge resulted in worsening of muscle weakness.\" Clinical signs often progress despite treatment, and most reported cases have resulted in death or euthanasia of affected puppies (Mignan et al., 2020). [IT thanks DVM student Lily Cai for contributions in April 2022]","defect":true,"group_name":"Myasthenic syndrome, congenital, COLQ-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011281","iri":"http://purl.obolibrary.org/obo/MONDO_0011281","label":"congenital myasthenic syndrome 5"}],"name":"Congenital myasthenic syndromes","omia_group_id":1928,"omia_phene_id":3721,"omia_record_id":"OMIA:001928-9615","publication_ids":[115678,120417,120841,123287,123288],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3721","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pneumonia, aspiration","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1930,"omia_phene_id":3723,"omia_record_id":"OMIA:001930-9615","publication_ids":[115707],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3723","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypomyelinogenesis, congenital","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":527,"omia_phene_id":3724,"omia_record_id":"OMIA:000527-9615","publication_ids":[115713],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3724","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Swedish Vallhund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201316"}],"characterised":true,"characterised_year":2017,"clinical_features":"As summarised by Cooper et al. (2014), \"By examining 324 dogs of the Swedish vallhund breed in seven countries and across three continents, we were able to describe a new and unique form of PRA characterized by the multifocal appearance of red and brown discoloration of the tapetal fundus followed over time by thinning of the retina. We propose three stages of the disease based on the appearance of the ocular fundus and associated visual deficits. Electroretinography revealed a gradual loss of both rod and cone photoreceptor-mediated function in Stages 2 and 3 of the disease. In the few dogs that suffered from pronounced vision loss, night-blindness occurred first in late Stage 2, followed by decreased day-vision in Stage 3. Histologic examinations confirmed the loss of photoreceptor cells at Stage 3, which was associated with the accumulation of autofluorescent material in the adjacent retinal pigment epithelium.\"","defect":true,"group_name":"Retinal atrophy, progressive, MERTK-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"A pedigree analysis \"of nearly 300 Swedish vallhund dogs, including 125 affected animals\" led Cooper et al. (2014) to conclude that this disorder is most likely autosomal recessive.","mondo_terms":[],"name":"Retinopathy","omia_group_id":1932,"omia_phene_id":3727,"omia_record_id":"OMIA:001932-9615","publication_ids":[115746,115747,116199,117733,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3727","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Perosomus elumbis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":789,"omia_phene_id":3728,"omia_record_id":"OMIA:000789-9615","publication_ids":[115750],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3728","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2013,"clinical_features":"","defect":true,"group_name":"Cushing syndrome, ACTH-independent, adrenal-dependent hypercortisolism","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"adrenocortical tumour","omia_group_id":1937,"omia_phene_id":3737,"omia_record_id":"OMIA:001937-9615","publication_ids":[115793,129077,130648],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3737","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypertriglyceridaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":514,"omia_phene_id":3747,"omia_record_id":"OMIA:000514-9615","publication_ids":[42332,115843,115844,115845,115846,115847,115852,116828,117535,120998,126510,126926,127021],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3747","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":true,"characterised_year":2015,"clinical_features":"As reported by Willet et al. (2015), \"The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number.\" Also, \"The three affected pups were born stillborn or died within hours of birth. Gross external examination of the pups by the attending veterinarian revealed a reduction in body length compared with normal littermates (data not available). The hindquarters of affected pups were reduced in size compared to the forequarters, giving an overall comma-like morphology to the body\". One of the affected samples had umbilical hernia and another had a cleft hard palate. ","defect":true,"group_name":"Spondylocostal dysostosis, autosomal recessive","inheritance":{"code":"RL","name":"Autosomal recessive lethal"},"inheritance_text":"The three-generation pedigree reported by Willet et al. (2015) was consistent with autosomal recessive inheritance, which was confirmed with genotyping of the causal mutation in the extended family of the affected dogs.","mondo_terms":[],"name":"","omia_group_id":1944,"omia_phene_id":3748,"omia_record_id":"OMIA:001944-9615","publication_ids":[115855,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3748","source_release":"retrieved-2026-09-12","summary":"Also called Comma defect (Willet et al., 2015), \"due to the gross anatomical shape of the abnormal pups\".","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Eurasier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200512"}],"characterised":true,"characterised_year":2015,"clinical_features":"This disorder in Eurasier dogs was described by Bernardino et al. (2015): \"A uniform cerebellar malformation characterized by consistent absence of the caudal portions of the cerebellar vermis and, to a lesser degree, the caudal portions of the cerebellar hemispheres in association with large retrocerebellar fluid accumulations was recognized in 14 closely related Eurasier dogs. Hydrocephalus was an additional feature in some dogs. All dogs displayed non-progressive ataxia, which had already been noted when the dogs were 5 - 6 weeks old. The severity of the ataxia varied between dogs, from mild truncal sway, subtle dysmetric gait, dysequilibrium and pelvic limb ataxia to severe cerebellar ataxia in puppies and episodic falling or rolling. Follow-up examinations in adult dogs showed improvement of the cerebellar ataxia and a still absent menace response. Epileptic seizures occurred in some dogs. The association of partial vermis agenesis with an enlarged fourth ventricle and an enlarged caudal (posterior) fossa resembled a Dandy-Walker-like malformation in some dogs\".","defect":true,"group_name":"Cerebellar hypoplasia, VLDLR-associated","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Dandy-Walker-like malformation; inferior cerebellar hypoplasia","omia_group_id":1947,"omia_phene_id":3750,"omia_record_id":"OMIA:001947-9615","publication_ids":[115892,115893,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3750","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0000238","iri":"http://purl.obolibrary.org/obo/HP_0000238","label":"hydrocephalus"},{"id":"HP:0000639","iri":"http://purl.obolibrary.org/obo/HP_0000639","label":"nystagmus"},{"id":"HP:0002438","iri":"http://purl.obolibrary.org/obo/HP_0002438","label":"cerebellar malformation"},{"id":"HP:0002527","iri":"http://purl.obolibrary.org/obo/HP_0002527","label":"fall"},{"id":"MP:0001393","iri":"http://purl.obolibrary.org/obo/MP_0001393","label":"ataxia"},{"id":"MP:0001406","iri":"http://purl.obolibrary.org/obo/MP_0001406","label":"abnormal gait"},{"id":"MP:0002064","iri":"http://purl.obolibrary.org/obo/MP_0002064","label":"seizure"},{"id":"MP:0005191","iri":"http://purl.obolibrary.org/obo/MP_0005191","label":"head tilt"}]}
{"breeds":[{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"}],"characterised":true,"characterised_year":2015,"clinical_features":"As reported by Kyöstilä et al. (2015), \"The typical clinical presentation in affected dogs was progressive ataxia\". Neurological examination \"revealed a mild to severe cerebellar ataxia . . . The majority of dogs had normal paw positioning responses when postural reactions were tested but showed delayed onset of correction in hopping reactions. Spinal reflexes were normal except for decreased or absent patellar reflexes in five dogs. Menace reaction was decreased in eight dogs, and exaggerated in one dog. Positional nystagmus was visible in four dogs during the eurological examination. Magnetic resonance imaging of the brain was performed in 11 affected dogs. The principal findings included signs of mild atrophy of the cerebellum in nine dogs and of the forebrain in six dogs. In five dogs, lateral ventricles were enlarged. A small corpus callosum was detected in three affected dogs when compared to age matched LRs. In two affected dogs, the brain imaging was unremarkable.\"","defect":true,"group_name":"Neurodegenerative vacuolar storage disease","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"LSD is inherited as a monogenic autosomal recessive trait. The age of onset varies and clinical symptoms appear at a mean age of 23 months with a range of approximately 4 months to 4 years. Kyöstilä et al. (2015) also noted incomplete penetrance as they encountered 3 out of 25 homozygous mutant dogs that did not show any clinical symptoms. These 3 dogs were 4, 7, and 12 years old at the time of the investigation.","mondo_terms":[],"name":"Lagotto storage disease","omia_group_id":1954,"omia_phene_id":3762,"omia_record_id":"OMIA:001954-9615","publication_ids":[115967,117626,120972,125285,127782,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3762","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basset Bleu de Gascogne (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200124"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"Small Swiss Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201251"}],"characterised":true,"characterised_year":2015,"clinical_features":"Guo et al. (2015): \"progressive neurological decline that included blindness, anxiety, and cognitive impairment. A diagnosis of neuronal ceroid lipofuscinosis was made based on neurological signs, magnetic resonance imaging of the brain, and fluorescence microscopic and electron microscopic examination of brain sections\". Similar clinical signs were also observed in Chihuahuas (Faller et al. 2016).<br>Rietmann et al. (2024) \"investigated two Small Swiss Hound littermates that showed progressive ataxia and loss of cognitive functions and vision starting around the age of 12 months. Both dogs had to be euthanized a few months after the onset of disease owing to the severity of their clinical signs.\"","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 7","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012588","iri":"http://purl.obolibrary.org/obo/MONDO_0012588","label":"neuronal ceroid lipofuscinosis 7"}],"name":"","omia_group_id":1962,"omia_phene_id":3776,"omia_record_id":"OMIA:001962-9615","publication_ids":[116003,116274,116621,116668,117735,120540,122714,123318,128324,128837],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3776","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Landseer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200809"}],"characterised":true,"characterised_year":2015,"clinical_features":"Generalized progressive muscle weakness is noticed very early in life. Due to the severity of the disease affected dogs are euthanized at 5-15 months of age (Steffen et al. 2015).\r\nBrands et al. (2020) \"present the long-term follow up characterization of the clinical and pathological phenotype of the Landseer dogs [homozgous for the p.Glu97* variant] and a comparative analysis between dogs and humans in order to provide the Landseer dog as a useful model for human UCMD\".","defect":true,"group_name":"Muscular dystrophy, Ullrich type, COL6A1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Muscular Dystrophy","omia_group_id":1967,"omia_phene_id":3783,"omia_record_id":"OMIA:001967-9615","publication_ids":[116106,116107,121124],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3783","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Black Russian Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200174"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2015,"clinical_features":"In Alaskan Huskies neurological signs start at 4 to 5 months of age with visual problems. Slightly later affected dogs display an altered voice due to laryngeal paralysis, regurgitation, and gait abnormalities progressing to a severe ataxia. Dogs are typically euthanized between 8 and 16 months of age. Affected dogs have bilateral microphthalmia, small pupils, and lenses with cataract. Some affected dogs additionally exhibit strabismus and/or persistent pupillary membranes (Wiedmer et al. 2015). The Black Russian Terriers presented slightly earlier than the Alaskan Huskies at 3 months of age with laryngeal paralysis and respiratory distress. They were all euthanized by 6 months of age for severe dyspnea (Mhlanga-Mutangadura et al. 2016 (Neurobiol. Dis.) and Dennis O'Brien, personal communication).","defect":true,"group_name":"Polyneuropathy, RAB3GAP1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Neuronal vacuolation and spinocerebellar degeneration; Polyneuropathy, ocular abnormalities and neuronal vacuolation;","omia_group_id":1970,"omia_phene_id":3788,"omia_record_id":"OMIA:001970-9615","publication_ids":[76187,80360,82657,109480,116121,116122,116123,116124,116126,120703,125653,128324,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3788","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"}],"characterised":true,"characterised_year":2015,"clinical_features":"Clinical examination revealed signs of a generalized severe hyperkeratosis in all cases with a formation of a strongly wrinkled, thickened and scaling skin especially in the region of the eyes and nose. These changes led to a dry inelastic and lichenified skin of an untidy appearance in the affected dogs and a markedly swollen periocular skin which impeded the opening of the puppy’s eyes in some cases. In-between the wrinkles the exudative character of the skin promoted secondary infections. Due to the poor prognosis, all affected dogs were euthanized at the age of 7–40 days. Additional computer tomographic and endoscopic examinations after euthanasia in two five week old affected dogs revealed a ventrally displaced auditory canal with an atypically wrinkled shape but no signs of other anomalies (Metzger et al. 2015).","defect":true,"group_name":"Ichthyosis, SLC27A4-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012089","iri":"http://purl.obolibrary.org/obo/MONDO_0012089","label":"ichthyosis prematurity syndrome"}],"name":"","omia_group_id":1973,"omia_phene_id":3791,"omia_record_id":"OMIA:001973-9615","publication_ids":[116158,116159,122810,123125],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3791","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Spanish Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201280"}],"characterised":true,"characterised_year":2015,"clinical_features":"As reported by Hahn et al. (2015): \"Affected dogs presented with various neurological deficits including gait abnormalities and behavioral deficits. Histopathology demonstrated spheroid formation accentuated in the grey matter of the cerebral hemispheres, the cerebellum, the brain stem and in the sensory pathways of the spinal cord. Iron accumulation was absent. Ultrastructurally spheroids contained predominantly closely packed vesicles with a double-layered membrane, which were characterized as autophagosomes using immunohistochemistry.\"","defect":true,"group_name":"Neuroaxonal dystrophy, TECPR2-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1975,"omia_phene_id":3794,"omia_record_id":"OMIA:001975-9615","publication_ids":[116173,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3794","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basset Fauve de Bretagne (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200125"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"},{"name":"Petit Basset Griffon Vendeen (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201009"}],"characterised":true,"characterised_year":2015,"clinical_features":"","defect":true,"group_name":"Glaucoma, primary open angle, ADAMTS17-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Weill-Marchesani-like syndrome; goniodysgenesis","omia_group_id":1976,"omia_phene_id":3797,"omia_record_id":"OMIA:001976-9615","publication_ids":[116184,116665,116700,116789,117009,117845,119276,119277,119278,123851,124864,125219,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3797","source_release":"retrieved-2026-09-12","summary":"see also OMIA 000588-9615 : Lens luxation in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"}],"characterised":true,"characterised_year":2015,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, CNGA1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0800405","iri":"http://purl.obolibrary.org/obo/MONDO_0800405","label":"CNGA1-related retinopathy"}],"name":"PRA, rod-cone degeneration","omia_group_id":1977,"omia_phene_id":3798,"omia_record_id":"OMIA:001977-9615","publication_ids":[116189,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3798","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2015,"clinical_features":"","defect":true,"group_name":"Achromatopsia-2, CNGA3-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009003","iri":"http://purl.obolibrary.org/obo/MONDO_0009003","label":"achromatopsia 2"}],"name":"Cone degeneration - hemeralopia/achromatopsia","omia_group_id":1481,"omia_phene_id":3801,"omia_record_id":"OMIA:001481-9615","publication_ids":[116201,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3801","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200034"},{"name":"American Bully (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200036"}],"characterised":true,"characterised_year":2017,"clinical_features":"The gross phenotype was manifest as a disheveled pelage shortly after birth, generalized scaling, and adherent brown scale with erythema of the abdominal skin (Mauldin et al. 2015).","defect":true,"group_name":"Ichthyosis, NIPAL4-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012847","iri":"http://purl.obolibrary.org/obo/MONDO_0012847","label":"autosomal recessive congenital ichthyosis 6"}],"name":"autosomal recessive congenital ichthyosis","omia_group_id":1980,"omia_phene_id":3804,"omia_record_id":"OMIA:001980-9615","publication_ids":[114161,116205,117474,118585,122810],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3804","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"}],"characterised":true,"characterised_year":2019,"clinical_features":"Kondo et al. (2015) reported \"Affected dogs had normal retinas on clinical examination, but showed no detectable rod responses. They had “negative-type” mixed rod and cone responses in full-field ERGs. Their photopic long-flash ERGs had normal OFF-responses associated with severely reduced ON-responses. The phenotype is similar to the Schubert-Bornschein form of complete CSNB in humans.\"","defect":true,"group_name":"Night blindness, congenital stationary, LRIT3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Kondo et al. (2015): \"o define the inheritance pattern for the disease, a colony of beagle dogs with CSNB was developed from 3 founder animals (F5858, M4 and M6233), and expanded by outcross, backcross and intercross to produce affected (n = 24) and obligate carrier (n = 22) dogs . . . . Dominant inheritance was excluded as the progeny (n = 11), both male and female, were phenotypically normal when affected dogs were outcrossed to unrelated normal dogs (expected = 5-6/11 dogs affected; observed = 0/11). When the progeny was used in backcrosses to affected animals, they produced affected and non-affected offspring in approximately 1:1 ratio as expected for an autosomal recessive disease. X-linked inheritance was ruled out as both sexes were affected in the pedigree. Eight of the nineteen offspring produced as a result of mating between obligate carrier and affected dogs had the CSNB phenotype. Mating between affected dogs resulted in pups all of which had the CSNB phenotype. These results are consistent with autosomal recessive mode of inheritance.\"","mondo_terms":[{"id":"MONDO:0014026","iri":"http://purl.obolibrary.org/obo/MONDO_0014026","label":"congenital stationary night blindness 1F"}],"name":"Congenital stationary night blindness","omia_group_id":1486,"omia_phene_id":3809,"omia_record_id":"OMIA:001486-9615","publication_ids":[116238,118059,120515,120982,123142,125010,125219,129012,129719,129760,130075],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3809","source_release":"retrieved-2026-09-12","summary":"Kondo et al. (2015) reported \"a naturally occurring disease in the beagle dog that is a model for autosomal recessive [complete Congenital Stationary Night Blindness] cCSNB in man\" Miyadera et al. (2022) and Takahashi et al. (2023) report extended functional rescue following subretinal gene therapy.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2014,"clinical_features":"Progressive retinal atrophy results in bilateral degeneration of the retina. Affected dogs typically present with bilateral and progressive loss of vision and will eventually be completely blind. Clinical signs of PRA 2 typically begin to manifest at an average age of 5 years. Clinical examination in affected animals will show a hyper-reflective tapetum and retinal vessel attenuation. In later stages of the disease, dogs will show changes in pigment, pale optic discs and optic nerve atrophy (Downs et al., 2011). Mäkeläinen et al. (2020): \"The progression of PRA for two of the dogs was followed for 2 years ... . In addition to PRA, the dogs showed a spectrum of clinical and morphological signs similar to primary and secondary characteristics of human BBS patients, such as obesity, renal anomalies, sperm defects, and anosmia.\" [IT thanks DVM student Rachel Simmonds for contributions to this entry in April 2022.]","defect":true,"group_name":"Retinal atrophy, progressive, TTC8-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013274","iri":"http://purl.obolibrary.org/obo/MONDO_0013274","label":"retinitis pigmentosa 51"},{"id":"MONDO:0014436","iri":"http://purl.obolibrary.org/obo/MONDO_0014436","label":"Bardet-Biedl syndrome 8"}],"name":"Golden Retriever PRA 2, Golden Retriever progressive retinal atrophy 2","omia_group_id":1984,"omia_phene_id":3810,"omia_record_id":"OMIA:001984-9615","publication_ids":[112004,116246,116380,123279,123857,125219,125653,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3810","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bedlington Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200137"}],"characterised":true,"characterised_year":2005,"clinical_features":"Su et al. (1982): Bedlington terriers with copper toxicosis initially present clinically normal despite increases in hepatic and renal and later brain copper levels. \"The dogs's ceruloplasmin level is reported to be normal, Kayser-Fleischer rings have not been observed, and neurological manifestations are lacking. However, owners of these dogs have noted significant personality changes preceding symptoms of the hepatic disease\" which occurs as disease is progressing. \r\nFavier et al. (2012) report longitudinal follow up of 5 COMMD-1 deficient Bedlington terriers until the age of 42 month: \"During the entire follow-up period dogs showed no abnormalities at physical examination. Serum ALT was significantly increased at 24, 36, and 42 months of age (2–3-fold), whereas serum AP significantly increased at 18 and 42 months of age. During the 42 months follow-up period, bile acids and albumin remained within reference limits ... .\"\r\nAcute clinical signs of hepatic disease in older animals include depression, vomiting, anorexia, prolonged capillary refill time, weight loss and jaundice. Chronic courses involve less severe signs but can include ascites, polydipsic and behavioural changes due to hepatic encephalopathy (Washabau, 2013; Herrtage et al., 1987).\r\nIT thanks DVM student Xinlin Dong, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Copper toxicosis, COMMD1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"copper toxicosis, atypical form of Wilson disease","omia_group_id":1988,"omia_phene_id":3820,"omia_record_id":"OMIA:001988-9615","publication_ids":[8359,9234,9371,22881,32613,38962,54125,54126,54129,55369,72018,77228,81029,83035,83036,83037,83038,85766,85963,86766,88755,91212,91413,91711,92572,95250,96479,99699,102935,105486,105688,106999,107035,107046,107058,107220,107408,107419,107879,112546,112547,112548,112549,112598,112599,112600,112601,117011,117203,117204,119381,120022,120467,120843,121000,121367,124708,124809,125685,125907,127424],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3820","source_release":"retrieved-2026-09-12","summary":"Bedlington terrier copper toxicosis has been reported to be caused by a homozygous exon deletion in COMMD1 (Forman et al., 2005). However, copper toxicosis has since been diagnosed in Bedlington terriers lacking the COMMD1 deletion, and in these dogs the disease has been associated with two splice variants in the ABCA12 gene (Haywood et al. 2016) and a variant in the ATP7B gene that has been proposed as causal variant for Wilson disease (see OMIA:001071-9615 : Wilson disease in Canis lupus familiaris) (Haywood et al., 2023). \r\n\r\nLabrador retriever copper toxicosis is associated with a missense mutation in ATP7B (see OMIA:001071-9615 : Wilson disease in Canis lupus familiaris), and with a protective mutation in ATP7A (see OMIA:002608-9615 : Modifier of copper toxicosis, ATP7A-related in Canis lupus familiaris).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Gordon Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200613"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Onychomadesis, symmetrical","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"Symmetrical onychomadesis or symmetrical lupoid onychodystrophy (SLO)","omia_group_id":1989,"omia_phene_id":3821,"omia_record_id":"OMIA:001989-9615","publication_ids":[59072,91350,99677,109195,109196,109201,109202,116308,117156,119954,123096,133402],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3821","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Elo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200479"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"Havanese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200662"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Distichiasis","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Peteresen et al. (2015) estimated the heritability of this disorder in English Cocker Spaniels to be \"moderate to high, i.e., 0.22 to 0.51\"\r\nBellamy et al. (2021) estimated the heritability in Havanese dogs in Norway to be high, varing \"between 0.276 (linear model) and 0.720 (Bayesian threshold model).\"\r\n\r\nJoergensen et al. (2022) estimated the heritability in Staffordshire bull terriers: \"The pedigree-based heritability was ~ 0.22 (on the underlying scale ~ 0.48), while the genomic-based heritability (on the underlying scale) was ~ 0.47, and ~ 0.37 when excluding close relatives with equal affection status.\"","mondo_terms":[],"name":"Aberrant eyelashes","omia_group_id":1841,"omia_phene_id":3822,"omia_record_id":"OMIA:001841-9615","publication_ids":[108315,116309,116310,116311,116312,116313,116314,116315,116316,116317,116318,116319,116320,116321,116322,122826,123891,124588,125219,125495,129266],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3822","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Height, HMGA2-associated body-size variation","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1968,"omia_phene_id":3829,"omia_record_id":"OMIA:001968-9615","publication_ids":[114925,116423,119932,132997],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3829","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glioma, predisposition to","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2012,"omia_phene_id":3868,"omia_record_id":"OMIA:002012-9615","publication_ids":[116632,116633,116634,116635,116636,116637,116638,116639,116640,116641,116642,116643,116644,116645,122764,122770,122771,122772,122773,122774,123609,124551,125089,125111,125637,125693,127204,128004,129033,131000],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3868","source_release":"retrieved-2026-09-12","summary":"Truvé et al. (2016): \"Gliomas are the most common form of malignant primary brain tumors in humans and second most common in dogs, occurring with similar frequencies in both species. Dogs are valuable spontaneous models of human complex diseases including cancers and may provide insight into disease susceptibility and oncogenesis. Several brachycephalic breeds such as Boxer, Bulldog and Boston Terrier have an elevated risk of developing glioma, but others, including Pug and Pekingese, are not at higher risk.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Flat-Coated Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200528"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2016,"clinical_features":"Obesity is a common condition that affects a large percentage of our companion animals (Raffan et al., 2016). Though a high calory diet and a lack of exercise may be at the base, a genetic component to obesity has been investigated (Raffan et al., 2016; Mankowska et al., 2017). A 14bp deletion in the proopiomelanocortin (POMC) gene was found in some Labrador retrievers and Flat-coated retrievers (Raffan et al., 2016). This mutation is predicted to disrupts the action of two peptides (β-MSH and β-endorphin), which are potent appetite and energy metabolism regulators. Due to a disrupted control of appetite, dogs with this mutation are more prone to overfeeding and hence gaining weight and adiposity (Raffan et al., 2016). An increased incidence of this mutation has been reported in assistance dogs, suggesting that selection of food-driven dogs for better trainability purposes inadvertently lead to the selection for this mutation . This mutation has not yet been identified in other breeds and doesn’t seem to have any correlation with diabetes mellitus to date (Davison et al., 2017). IT thanks DVM student Martina Zanin, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Obesity","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1258,"omia_phene_id":3869,"omia_record_id":"OMIA:001258-9615","publication_ids":[116655,117838,120477,120478,121039,122097,123628,125364,125924,126002,127062,127077,129655,129788,132217],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3869","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"}],"characterised":true,"characterised_year":2016,"clinical_features":"Hytönen et a. (2016) \"were approached by a Border Collie breeder with a family of several affected dogs that suffered from severe tooth wear resulting in pulpitis and requiring extraction of those teeth\"","defect":true,"group_name":"Dental hypomineralization","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2015,"omia_phene_id":3872,"omia_record_id":"OMIA:002015-9615","publication_ids":[116682,117295],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3872","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Wire Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201424"}],"characterised":true,"characterised_year":2016,"clinical_features":"Hytönen et al. (2016): \"Wire Fox Terrier breeders contacted us for help in the characterization of an unknown congenital syndrome with severe mandibular prognathia and other skeletal features, mainly severe patellar luxation, in the breed\"","defect":true,"group_name":"Van den Ende-Gupta syndrome","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010959","iri":"http://purl.obolibrary.org/obo/MONDO_0010959","label":"van den Ende-Gupta syndrome"}],"name":"","omia_group_id":2016,"omia_phene_id":3873,"omia_record_id":"OMIA:002016-9615","publication_ids":[116682,117295,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3873","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":false,"characterised_year":null,"clinical_features":"As reported by Doelle et al. (2016), \"Affected dogs exhibited markedly indurated skin that was attached firmly to the underlying tissue and incomplete closure of the mouth and eyes. No abnormalities were found by neurological or orthopaedic examination, radiographs of the head or whole body computed tomography. Histologically, the dermis and pannicular septa were thickened by a marked increase in coarse collagen fibres and a mild to moderate increase in collagen fibre diameter.\"","defect":true,"group_name":"Stiff skin syndrome","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Doelle et al. (2016) provided limited circumstantial evidence consistent with autosomal recessive inheritance.","mondo_terms":[],"name":"","omia_group_id":2018,"omia_phene_id":3876,"omia_record_id":"OMIA:002018-9615","publication_ids":[116703],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3876","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Maltese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200856"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2015,"clinical_features":"","defect":true,"group_name":"Ligneous membranitis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2020,"omia_phene_id":3879,"omia_record_id":"OMIA:002020-9615","publication_ids":[116762,116763,116764,116765,116766,116767,116768,116769,116770,121950,123125,125219],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3879","source_release":"retrieved-2026-09-12","summary":"Ainsworth et al. (2015) \"Ligneous membranitis (LM) is a rare chronic inflammatory condition of the mucous membranes associated with plasminogen (encoded by PLG) deficiency in affected humans and dogs. ... We identified related Scottish Terriers (littermates) with severe LM and unaffected relatives (sire, dam and a sibling from a previous litter). ... Sequencing of PLG from the affected dogs revealed a homozygous A&gt;T single nucleotide polymorphism in an intron donor site (c.1256+2T&gt;A).\" Turba et al. (2021): \"LM was diagnosed in a 7-month-old male Maltese dog. The dog was examined for severe recurrent conjunctivitis. A diagnosis of ligneous conjunctivitis was made by an ophthalmologist after a thorough eye examination and was confirmed by a complete lack of plasma activity of plasminogen. The main local signs were redness of the conjunctiva with persistent membranes having ligneous (wood-like) membranes on the eyes. The disease was associated with a complex rearrangement involving the plasminogen gene loci, causing the complete deletion of exon 1.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Italian Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200714"}],"characterised":true,"characterised_year":2016,"clinical_features":"","defect":true,"group_name":"Myeloperoxidase deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Since the report by Gentilini et al. (2016) involved just one dog from a local dog shelter, they were not able to provide any direct evidence on inheritance. However, given that this disorder involves homozygosity for an allele at a locus encoding an enzyme, the disorder is most likely to be autosomal recessive. ","mondo_terms":[{"id":"MONDO:0009694","iri":"http://purl.obolibrary.org/obo/MONDO_0009694","label":"myeloperoxidase deficiency"}],"name":"","omia_group_id":2028,"omia_phene_id":3893,"omia_record_id":"OMIA:002028-9615","publication_ids":[116831],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3893","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Lundehund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200838"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"}],"characterised":true,"characterised_year":2016,"clinical_features":"Metzger et al. (2016): \"the Lundehund harbors a breed disposition for a syndrome comprising particular features of protein-losing enteropathy (PLE), intestinal lymphangiectasia, gastrointestinal disturbance, inflammatory bowel disease and malabsorption designated as Lundehund syndrome (LS) . . . . Clinical signs are diarrhea, vomiting, weight loss, edema and apathy often accompanied with decreased concentrations of albumin and globulin in blood profile\"","defect":true,"group_name":"Lundehund syndrome","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Metzger et al. (2016): \" A complex segregation analysis revealed a recessive major gene model as the most likely mode of inheritance with the lowest −2 log-likelihood at 52.6\".","mondo_terms":[],"name":"","omia_group_id":2031,"omia_phene_id":3896,"omia_record_id":"OMIA:002031-9615","publication_ids":[2738,116847,120774,120775,125463,125653,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3896","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"German Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200585"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2016,"clinical_features":"Forman et al. (2106): \" Clinical signs start between two and seven months of age and include progressive proprioceptive ataxia with intermittent knuckling of the paws, hyperextension of the limbs, and self-mutilation wounds in the distal part of the limbs . . . . Usually, the pelvic limbs are more severely affected than the thoracic limbs. There is decreased or loss of proprioception and nociception in all limbs, and in some cases autonomic signs such as urinary incontinence and in the later stage regurgitation has also been reported (Vermeersch et al. 2005). Electrophysiological studies show decreased or absent sensory nerve compound action potentials, normal or reduced motor nerve conduction velocities and normal electromyography in the appendicular muscles.\" Gutierrez-Quintana et al. (2021): \"Five related mixed breed puppies from 2 litters were presented over a 2-year period ... . All had a previous history of severe mutilation of the distal pelvic limbs and chronic progressive pelvic limb gait abnormalities. ... Electrodiagnostic testing was performed ... and abnormalities were limited to the absence of sensory nerve action potentials (SNAP) during sensory nerve stimulation.\"","defect":true,"group_name":"Neuropathy, sensory, RETREG1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013142","iri":"http://purl.obolibrary.org/obo/MONDO_0013142","label":"neuropathy, hereditary sensory and autonomic, type 2B"}],"name":"Sensory neuropathy; hereditary sensory and autonomic neuropathy","omia_group_id":2032,"omia_phene_id":3902,"omia_record_id":"OMIA:002032-9615","publication_ids":[109108,109109,116894,116895,118890,118991,118992,121982,121983,121984,128324,128532],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3902","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Vizsla (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201389"}],"characterised":true,"characterised_year":2016,"clinical_features":"Fenn et al. (2016) report two affected littermates \"with a history of progressive ataxia, starting around three months of age. Clinical signs included marked hypermetric and dysmetric ataxia, truncal sway, intention tremors and absent menace responses, with positional horizontal nystagmus in one dog. Routine diagnostic investigations were unremarkable, and magnetic resonance imaging performed in one dog revealed mild craniodorsal cerebellar sulci widening, supportive of cerebellar atrophy.\"","defect":true,"group_name":"Cerebellar cortical degeneration, SNX14-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2034,"omia_phene_id":3907,"omia_record_id":"OMIA:002034-9615","publication_ids":[116929,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3907","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the SNX14 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus, locus heterogeneity for this phenotype must be considered.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Puli (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201102"}],"characterised":true,"characterised_year":2017,"clinical_features":"Chew et al. (2017; Animal Genetics): \"Diagnosis was based on ophthalmologic changes observed including vascular attenuation, hyper-reflectivity and reduced myelination in the optic nerve head.\"","defect":true,"group_name":"Bardet-Biedl syndrome 4","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Chew et al. (2017; Animal Genetics) reported that \"The pattern of inheritance for PRA in the Hungarian Puli family is consistent with the autosomal recessive form of inheritance.\"","mondo_terms":[{"id":"MONDO:0014433","iri":"http://purl.obolibrary.org/obo/MONDO_0014433","label":"Bardet-Biedl syndrome 4"}],"name":"","omia_group_id":2045,"omia_phene_id":3923,"omia_record_id":"OMIA:002045-9615","publication_ids":[117611,117613,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3923","source_release":"retrieved-2026-09-12","summary":"This disorder is a form of progressive retinal atrophy (PRA).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Shiba Inu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201220"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glaucoma, primary open angle","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2046,"omia_phene_id":3925,"omia_record_id":"OMIA:002046-9615","publication_ids":[114922,117009,118708,123695,125219],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3925","source_release":"retrieved-2026-09-12","summary":"see also entries in OMIA relating to forms of this disease for which causal variants have been identified: e.g., OMIA:001870-9615 : Glaucoma, primary open angle, ADAMTS10-related in Canis lupus familiaris; OMIA:001976-9615 : Glaucoma, primary open angle, ADAMTS17-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"}],"characterised":true,"characterised_year":2025,"clinical_features":"As summarised by Barker et al. (2016): \"Clinical signs of neurological dysfunction began between 2 months and 5 years of age and were progressive in nature. They were characterized by episodes of marked movements during sleep, increased anxiety, noise phobia, and gait abnormalities. Magnetic resonance imaging documented symmetrical, progressively increasing, T2‐weighted image intensity, predominantly within the caudate nuclei, consistent with necrosis secondary to gray matter degeneration. Abnormalities were not detected on clinicopathological analysis of blood and cerebrospinal fluid, infectious disease screening or urine metabolite screening in most cases.\"","defect":true,"group_name":"Degenerative encephalopathy, RB1CC1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"\"Genealogical analysis supports an autosomal recessive mode of inheritance.\" (Barker et al., 2016)","mondo_terms":[],"name":"","omia_group_id":2055,"omia_phene_id":3941,"omia_record_id":"OMIA:002055-9615","publication_ids":[117096,129558],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3941","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen Dal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2057,"omia_phene_id":3945,"omia_record_id":"OMIA:002057-9615","publication_ids":[117154,120516,121350,122970,124581,125254,130462],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3945","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen Kai","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2058,"omia_phene_id":3946,"omia_record_id":"OMIA:002058-9615","publication_ids":[117153,117880,120516,121350,122970],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3946","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Guillain-Barr-like polyradiculoneuropathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2062,"omia_phene_id":3952,"omia_record_id":"OMIA:002062-9615","publication_ids":[117208],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3952","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Stevens-Johnson syndrome, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2070,"omia_phene_id":3963,"omia_record_id":"OMIA:002070-9615","publication_ids":[117273],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3963","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2016,"clinical_features":"Busse et al. (2019): \"Labrador Retrievers affected by MCD were presented between the age of 4.5 and 6 years of age with a history of cloudy eyes and/or visual impairment. Findings on ophthalmic examination included a diffuse haze of the corneal stroma and multiple, well-demarcated, off-white to yellow-brown, punctate corneal opacities heterogeneous in size. Corneal vascularization developed in most dogs as the disease progressed. Disease progression was associated with increased density of the corneal haze as well as increased number and size of the focal opacities and dogs developed significant visual impairment. Spectral domain-optical coherence tomography revealed multifocal hyper-reflective regions within the stroma. In vivo confocal microscopy revealed marked alterations in reflectivity throughout the entire stroma. Normal keratocytes could not be identified in affected areas.\"","defect":true,"group_name":"Macular corneal dystrophy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009020","iri":"http://purl.obolibrary.org/obo/MONDO_0009020","label":"macular corneal dystrophy"}],"name":"","omia_group_id":2071,"omia_phene_id":3969,"omia_record_id":"OMIA:002071-9615","publication_ids":[117296,117297,120787,125219],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3969","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Old Danish Pointing Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0000668"}],"characterised":true,"characterised_year":2007,"clinical_features":"Affected dogs can run normally for 5 to 30 minutes, but then begin to take shorter and shorter strides. Eventually, they fall down with flexed legs. The signs disappear after several minutes of rest, but will recur if exercise is continued. These dogs have no detectable antibodies against acetylcholine receptors, and have normal numbers of acetylcholine receptors at the neuromuscular junction. In contrast to dogs with myasthenia gravis, neither edrophonium nor neostigmine has any effect on the clinical signs (Proschowsky et al., 2007).","defect":true,"group_name":"Myasthenic syndrome, congenital, CHAT-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009689","iri":"http://purl.obolibrary.org/obo/MONDO_0009689","label":"congenital myasthenic syndrome 6"}],"name":"Congenital myasthenic syndrome","omia_group_id":2072,"omia_phene_id":3972,"omia_record_id":"OMIA:002072-9615","publication_ids":[44476,108230,110536,120841,124982,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3972","source_release":"retrieved-2026-09-12","summary":"Congenital myasthenic syndrome is a neuromuscular disorder of Old Danish Pointing Dogs characterized by transient paralysis after exercise. The causative mutation in ChAT causes reduced presynaptic acetylcholine synthesis. A genetic test is available.\r\n\r\nEdited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Heideterrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200666"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Smooth Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201258"}],"characterised":true,"characterised_year":2015,"clinical_features":"Rinz et al. (2015) reported that affected Jack Russell Terrier (JRT) pups appeared normal until 6 weeks of age. \"Affected JRT pups showed generalized muscle weakness at 7 weeks of age, walking only briefly for 10–15 short-strided steps before sitting or lying down.\" Treatment with anticholinesterase drug resulted in temporary improvement of muscle weakness. \"Development of drug resistance necessitated euthanasia.\" Herder et al. (2017): \"In a litter of Heideterriers, four out of 11 puppies showed a lack of reflexes and coordination of the front limbs 6 days after birth. Consciousness and general condition of these animals was reported to be normal, and none showed fever. The four affected puppies displayed weakness progressing over the course of the day and peaking at night time. The most severely affected animal showed falling to the side and recumbency, while still being alert and trying to play in this position.\"","defect":true,"group_name":"Myasthenic syndrome, congenital, CHRNE-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Jack Russel terrier type congenital myasthenic\r\nsyndrome; post-synaptic congenital myasthenic syndrome;  myasthenia gravis-like disease","omia_group_id":685,"omia_phene_id":3973,"omia_record_id":"OMIA:000685-9615","publication_ids":[7631,117324,117325,117326,117327,117328,117625,120841,128182,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3973","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hyperhomocysteinaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Hyperhomocysteinemia","omia_group_id":2079,"omia_phene_id":3982,"omia_record_id":"OMIA:002079-9615","publication_ids":[117389,124719],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3982","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Eurasier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200512"}],"characterised":true,"characterised_year":2016,"clinical_features":"","defect":true,"group_name":"Epidermolysis bullosa, simplex, PLEC-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2080,"omia_phene_id":3983,"omia_record_id":"OMIA:002080-9615","publication_ids":[117396,123125,123600,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3983","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Epidermolysis bullosa, simplex","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2082,"omia_phene_id":3987,"omia_record_id":"OMIA:002082-9615","publication_ids":[6840],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3987","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Soft Coated Wheaten Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201260"}],"characterised":true,"characterised_year":2016,"clinical_features":"","defect":true,"group_name":"Dyskinesia, paroxysmal, PIGN-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2084,"omia_phene_id":3989,"omia_record_id":"OMIA:002084-9615","publication_ids":[117400,117405,117686,122714,123965,128068,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3989","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"}],"characterised":false,"characterised_year":null,"clinical_features":"As reported by Somma et al. (2017), \"The retinal dystrophy reported here in Whippet dogs has a unique phenotype of an initial lack of ERG b-wave, development of retinal bullae then a progressive generalized retinal degeneration\".","defect":true,"group_name":"Retinal atrophy, progressive, Whippet","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2085,"omia_phene_id":3990,"omia_record_id":"OMIA:002085-9615","publication_ids":[117407,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3990","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dogue de Bordeaux (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200450"}],"characterised":true,"characterised_year":2015,"clinical_features":"Plassais et al. (2015): \"The onset usually occurred between 10 weeks and 1 year of age. First described by Paradis (1992), affected dogs exhibit a painful thickening of the footpads with severe keratinous proliferations and fissures only at the ground contact locations similar to those observed in FNEPPK patients . . . . Cracks predispose the dogs to secondary infections, leading to lameness, causing the dog to be reluctant to walk. Nails did not seem to be affected . . . Similarly, no other cutaneous sign such as oral leukoplakia, cysts, or follicular keratosis was reported.\"","defect":true,"group_name":"Palmoplantar keratoderma, nonepidermolytic, focal 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013073","iri":"http://purl.obolibrary.org/obo/MONDO_0013073","label":"palmoplantar keratoderma, nonepidermolytic, focal 1"}],"name":"","omia_group_id":2088,"omia_phene_id":3993,"omia_record_id":"OMIA:002088-9615","publication_ids":[117450,117451,123125],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3993","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"},{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"Bouvier des Ardennes (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200207"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"},{"name":"Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201145"},{"name":"Smooth Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201258"},{"name":"Tenterfield Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201342"}],"characterised":true,"characterised_year":2014,"clinical_features":"Spinocerebellar ataxia with myokymia, seizures, or both (SAMS): \"The median age at onset of cerebellar ataxia in 12 dogs was 3 months (range, 2–6 months)\" (Gilliam et al. 2014). Ten out of twelve SAMS-affected dogs of the Russell terrier group showed muscle twitches (myokymia). The median age at onset for myokymia was 6 months (range, 3–8 months). Some SAMS dogs developed seizures. (Gilliam et al. 2014). Spongy degeneration with cerebellar ataxia 1 (SDCA1): This phenotype occurs in Malinois dogs and has an earlier age of onset than SAMS. Kleiter et al. (2011) investigated 5 closely related litters with presumed SDCA1 (the KCNJ10:p.Leu329Pro variant was confirmed in only one of the litters, Mauri et al. 2017). Malinois puppies with SDCA1 developed a severe ataxia at 4-7 weeks of age. Affected dogs showed shivering and were unable to start walking without falling. The severe condition resulted in euthanasia at 5-13 weeks of age (Kleiter et al. 2011). Van Poucke et al. (2017) reported another detailed clinical analysis of 3 SDCA1 affected Malinois dogs. One of the dogs was still alive at 1 year of age despite severely debilitating non-ambulatory ataxia. Van Poucke et al. noted ataxia, myokymia and neuromyotonia as well as auditory changes in SDCA1 affected dogs.","defect":true,"group_name":"Ataxia, cerebellar, KCNJ10-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013005","iri":"http://purl.obolibrary.org/obo/MONDO_0013005","label":"EAST syndrome"}],"name":"Spinocerebellar ataxia with myokymia, seizures or both (SAMS); spongy degeneration with cerebellar ataxia 1 (SDCA1)","omia_group_id":2089,"omia_phene_id":3994,"omia_record_id":"OMIA:002089-9615","publication_ids":[6358,26046,44102,107373,110678,115688,115689,115690,115691,115692,117132,117171,117436,117449,117459,117562,122714,123916,125285,125653,126199,128324,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3994","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes ataxia forms that are caused by genetic variants in the KCNJ10 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023, pmid <a href=\"https://pubmed.ncbi.nlm.nih.gov/37341581/\">37341581</a>). Thus locus heterogeneity for this phenotype must be considered. There are currently 2 different KCNJ10 pathogenic variants known in dogs (p.Ile209Met in various Terrier breeds and p.Leu329Pro in Belgian Shepherds). These canine disorders represent models for SeSAME/EAST syndrome in humans (see MIM link above).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"}],"characterised":true,"characterised_year":2012,"clinical_features":"A (single) four- week- old male beagle puppy with a ten-day history of severe cerebellar ataxia was investigated. \"The dog was the only affected one from a litter of seven puppies. The breeder noticed that the affected puppy was not able to ambulate normally from the onset of walking and the clinical signs had remained stable since then. The puppy was otherwise eating and drinking well and there were no signs of systemic illness in the littermates, in the dam (also during gestation) or in the sire. Physical examination did not reveal any gross abnormalities apart from the neurological signs. Neurological examination revealed severe cerebellar ataxia, with tendency to lean and fall towards both sides, resulting in inability to walk without assistance. Proprioceptive positioning was normal while hopping reactions were abnormal with delayed onset of protraction and exaggerated response, once initiated. Spinal reflexes were normal in all four limbs. Cranial nerve examination revealed an absent menace response bilaterally with normal vision. Occasionally when the head was positioned in extension spontaneous rotatory nystagmus was observed. A lesion involving mainly the cerebellum and spinocerebellar tracts was suspected.\" (Forman et al. 2012)","defect":true,"group_name":"Ataxia, spinocerebellar, SPTBN2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Neonatal cerebellar cortical degeneration","omia_group_id":2092,"omia_phene_id":4000,"omia_record_id":"OMIA:002092-9615","publication_ids":[112558,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4000","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the SPTBN2 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus, locus heterogeneity for this phenotype must be considered. The SPTBN2 associated canine disorder represents a model for spinocerebeallar ataxia, autosomal recessive 14, and possibly also spinocerebellar ataxia 5 in humans (see MIM links above).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lameness","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":579,"omia_phene_id":4003,"omia_record_id":"OMIA:000579-9615","publication_ids":[117477],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4003","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Hairless Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200049"},{"name":"Rat Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201125"},{"name":"Scottish Deerhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201195"}],"characterised":true,"characterised_year":2017,"clinical_features":"American Hairless Terrier puppies are born with a sparse downy coat of hair that is lost within the first months of life and not replaced. Whiskers and eyebrows are present (Sponenberg et al., 1988). The 2 Scottish Deerhound puppies reported by Hytönen &amp; Lohi (2019) \"were born with sparse hair, but lost it completely within the first 2 months of life.\" Parker et al. (2020) identified the condition in an independent Scottish Deerhound family and noted that \"puppies displayed either a normal, full coat or a sparse and receding coat ... . In those who initially had hair but went bald, the coat progressively thinned early in life and was completely gone by five weeks.\" Hairless dogs in both breeds are described as otherwise generally healthy (Parker et al., 2017; Hytönen &amp; Lohi, 2019; Parker et al., 2020), but hairlessness is considered non desirable in the Scottish Deerhound.","defect":true,"group_name":"Hypotrichosis, recessive","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Sponenberg et al. (1988) reported matings of haired American Rat Terriers and American Hairless Terriers (AHT, the first AHT is from a litter American Rat Terriers) and concluded that the results were consistent with an autosomal recessive inheritance.","mondo_terms":[],"name":"Recessive hairlessness, congenital alopecia","omia_group_id":1279,"omia_phene_id":4005,"omia_record_id":"OMIA:001279-9615","publication_ids":[117501,117502,118931,120420,123125,124961,124967,125653,130364],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4005","source_release":"retrieved-2026-09-12","summary":"See also <a href=\"https://www.omia.org/OMIA000323/9615/\">OMIA:000323-9615</a> : Ectodermal dysplasia in Canis lupus familiaris (dog) for a different genetic form of hairless dogs due to variants in the <em>FOXI3</em> gene.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"}],"characterised":true,"characterised_year":2017,"clinical_features":"Affected Rhodesian Ridgeback (RR) dogs present with frequent myoclonic twitches that tend to begin between the age of 6 weeks and 18 months old. These episodes can be triggered by visual stimuli including flashing lights, sudden light exposure or flickering light (Wielaender et al., 2017). Generally, episodes begin when animals are recumbent and relaxed, but occasionally occur when dogs are standing (Wielaender et al., 2017). Twitches are mainly seen in the musculature of the trunk and proximal limb, as well as in cervical musculature and masticatory muscles (Wielaender et al., 2017). In 38% of dogs, the disease advanced to generalised tonic-clonic seizures within 6 months (Wielaender et al., 2017). No changes in behaviour have been noted prior to seizure episodes (Wielaender et al., 2017). Wielaender et al., 2018: \"Absence seizures represent another seizure type in juvenile myoclonic epilepsy (JME) in RR dogs.\"\r\nIT thanks DVM student Emily Gee, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Epilepsy, generalized myoclonic, with photosensitivity","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2095,"omia_phene_id":4007,"omia_record_id":"OMIA:002095-9615","publication_ids":[117508,118904,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4007","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Italian Spinone (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200721"}],"characterised":true,"characterised_year":2015,"clinical_features":"\"Clinical signs start to appear at four months of age and progress to a degree of dysfunction which leads to euthanasia of affected dogs at one year of age on average.\" ... \"Neurological characteristics of SCAIS include a wide-based stance, spinocerebellar ataxia characterised by thoracic limb hypermetria (hyperextension), pelvic limb hyperflexion, truncal swaying, impaired balance, pendular nystagmus and absent menace response bilaterally. The remainder of the neurological examination was within normal limits. As the disease progressed intentional head tremor was observed and balance impairment deteriorated to the point that the dogs were unable to stand up and ambulate at approximately 1 year of age.\" (Forman et al. 2015)","defect":true,"group_name":"Ataxia, spinocerebellar, ITPR1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Spinocerebellar ataxia","omia_group_id":2097,"omia_phene_id":4009,"omia_record_id":"OMIA:002097-9615","publication_ids":[117522,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4009","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by genetic variants in the ITPR1 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus, locus heterogeneity for this phenotype must be considered.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"}],"characterised":true,"characterised_year":2017,"clinical_features":"Bauer et al. (2017) \"describe a novel non-epidermolytic form of ichthyosis in a German Shepherd. In this breed, until now, no ichthyosis cases have been reported in the scientific literature. . . . Dermatological examination revealed generalized hypotrichosis and focal areas of alopecia with generalized severe exfoliation of greyish scales and mild erythema. Comedones were seen on the ventral abdomen and in the perivulvar area.\"","defect":true,"group_name":"Ichthyosis, ASPRV1-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2099,"omia_phene_id":4011,"omia_record_id":"OMIA:002099-9615","publication_ids":[117528,122810,123125,123600,127208],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4011","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Papillon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200985"}],"characterised":true,"characterised_year":2017,"clinical_features":"Tsuboi et al. (2017) investigated three affected Papillon dogs: \"The affected dogs initially developed intention tremor and hypermetria at a very young age, and the symptoms gradually progressed to cerebellar ataxia, tetraplegia, blindness, and deafness.\" Onset of disease was between 13-16 weeks of age and death occurred between 7 to 8 month of age.","defect":true,"group_name":"Neuroaxonal dystrophy, PLA2G6-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2105,"omia_phene_id":4026,"omia_record_id":"OMIA:002105-9615","publication_ids":[62729,108320,109271,109272,109273,117594,121363,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4026","source_release":"retrieved-2026-09-12","summary":"Neuroaxonal dystrophy in Papillon dogs was fist reported in 1995 in England [Franklin et al., 19851], and has since been reported in several other countries. Tsuboi et al. (2017) identified the likely causal variant.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"}],"characterised":true,"characterised_year":2017,"clinical_features":"The primary clinical sign consisted of a loss of coordination and generalized ataxic gait starting at 4 weeks of age. SDCA2 affected dogs also had seizures, showed pacing and circling and developed central blindness. Due to the rapid progression of the neurological signs, most puppies were euthanized at 6 weeks of age. One affected puppy died at 6.5 weeks of age during a seizure (Mauri et al. 2017).","defect":true,"group_name":"Ataxia, cerebellar, ATP1B2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Spongy degeneration with cerebellar ataxia 2","omia_group_id":2110,"omia_phene_id":4033,"omia_record_id":"OMIA:002110-9615","publication_ids":[117636,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4033","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the ATP1B2 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus locus heterogeneity for this phenotype must be considered.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Chow Chow (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200361"},{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"}],"characterised":true,"characterised_year":2001,"clinical_features":"","defect":true,"group_name":"Osteogenesis imperfecta, COL1A2-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2112,"omia_phene_id":4037,"omia_record_id":"OMIA:002112-9615","publication_ids":[96732,117798,119946],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4037","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Stereotypical hypersociability","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2115,"omia_phene_id":4042,"omia_record_id":"OMIA:002115-9615","publication_ids":[117678],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4042","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Appenzeller Sennenhund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200068"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2017,"clinical_features":"Bauer et al. (2017):\"No abnormalities were found on the affected daughter during general physical examination except a stunted growth. Linear hyperplastic and partially alopecic lesions, covered with thick brown scales and clusters of dilated follicular ostia were the most prominent dermatological features (Figure 1). The lesions were distributed along Blaschko’s lines in a bilateral rather symmetrical fashion and were more evident on the limbs, the head, the neck and the dorsal trunk. The abdominal and inguinal skin appeared normal. Frond like hyperkeratotic lesions at the margin of all the pawpads with occasional horn-like projections were considered the most probable cause of the visible lameness. Cytological examination of the linear hyperplastic lesions, revealed the presence of variable numbers of coccoid bacteria and a large number of Malassezia yeasts which were suspected to substantially contribute to the pruritus and the offensive odor. Results of the blood tests and urinalysis were unremarkable.\" De Lucia et al. (2019): \"Alopecic scaly plaques following the Blaschko’s lines on the limbs, the head, the dorsal neck and the trunk, and severe foot pads hyperkeratosis were the most relevant lesions\"","defect":true,"group_name":"Verrucous epidermal keratinocytic nevi","inheritance":{"code":"XLSD","name":"X-linked incomplete dominant"},"inheritance_text":"De Lucia et al. (2019): \"In heterozygous females, with an X-linked dominant or semidominant genodermatosis, . . . random inactivation of the X chromosome is responsible for the development of normal and abnormal skin segments distributed in a mosaic pattern. In fact, normal skin derives from progenitor cells in which the X-chromosome carrying the pathogenic variant has been inactivated, whereas stripes or patches of abnormal skin result from progenitor cells after the inactivation of the wild-type (normal) X-chromosome. X-linked cutaneous mosaicism can be heritable and is normally observed in heterozygous females.\" The trait is embryonic lethal in hemizygous mutant males (Bauer et al. 2017).","mondo_terms":[],"name":"Many alias names exist for the phenotype. They include congenital cornification disorder; CHILD nevi; CHILD-like nevi; ILVEN.\r\nThe human phenotype resulting from NSDHL loss-of-function variants is termed congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome). CHILD syndrome is characterized by epidermal nevi and striking unilateral limb defects. Animals (dogs, cats, mice) with NSDHL variants have similar epidermal nevi, but so far were never reported to also have the limb defects seen in human CHILD syndrome.","omia_group_id":2117,"omia_phene_id":4047,"omia_record_id":"OMIA:002117-9615","publication_ids":[80807,112326,117685,119091,120916,121005,122810,123125,125653,127389,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4047","source_release":"retrieved-2026-09-12","summary":"De Lucia et al. (2019): \"Veterinary clinicians should be aware of cutaneous mosaicism and consider X-linked genodermatoses when seeing female cases with segmental cutaneous diseases like the one following the Blaschko’s lines.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Welsh Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201411"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pectinate ligament dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2118,"omia_phene_id":4048,"omia_record_id":"OMIA:002118-9615","publication_ids":[116871],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4048","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Melanoma, congenital","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":634,"omia_phene_id":4049,"omia_record_id":"OMIA:000634-9615","publication_ids":[117692,127377,127831],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4049","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"}],"characterised":true,"characterised_year":2017,"clinical_features":"","defect":true,"group_name":"Polyneuropathy, GJA9-related","inheritance":{"code":"AID","name":"Autosomal incomplete dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2119,"omia_phene_id":4050,"omia_record_id":"OMIA:002119-9615","publication_ids":[109480,117701,125653,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4050","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"}],"characterised":true,"characterised_year":2010,"clinical_features":"In Greyhounds, this polyneuropathy becomes evident in juvenile dogs between the ages of three and nine months (Drögemüller et al., 2010). Early clinical features include exercise intolerance (e.g. shaking and collapse after exercise), abnormal gait (e.g. bunny hopping and high stepping), while ataxia, dysphonia and severe muscle atrophy were associated with later clinical features (Drögemüller et al., 2010). Neurological examination may reveal progressive lower motor neuron signs, including progressive ataxia and tetraparesis, delayed proprioceptive paw positioning, distal limb muscle atrophy, hyporeflexia, and inspiratory stridor (high pitched noise during inspiration) (Drögemüller et al., 2010).\r\n[IT thanks DVM student Anna Johnston, who provided the basis of this contribution in April 2022.]","defect":true,"group_name":"Polyneuropathy,  NDRG1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2120,"omia_phene_id":4052,"omia_record_id":"OMIA:002120-9615","publication_ids":[77412,109112,109397,112426,113548,117586,121111,122998,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4052","source_release":"retrieved-2026-09-12","summary":"The polyneuropathy of juvenile Greyhounds shows clinical similarities to the genetically heterogeneous Charcot-Marie-Tooth disease in humans.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boston Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200204"},{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"}],"characterised":true,"characterised_year":2017,"clinical_features":"Cox et al. (2017): \"marked muscle weakness and atrophy in the shoulder and hips during puppyhood\"\r\nBrunetti et al. (2023): \"An 8-month-old female Lagotto Romagnolo dog was presented with a 1-month history of an initial severe reluctance to move ... , the dog rapidly ... [progressed] to a marked stiff gait. Dysphagia, dysphonia and polyuria and polydipsia appeared in the last five days prior to the examination. ... The dog showed a progressive rapid worsening of the clinical signs leading in approximately one month to a severe non-ambulatory tetraparesis and severe dysphagia.\"","defect":true,"group_name":"Muscular dystrophy, limb-girdle, type R6 (LGMDR6)","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011028","iri":"http://purl.obolibrary.org/obo/MONDO_0011028","label":"autosomal recessive limb-girdle muscular dystrophy type 2F"}],"name":"","omia_group_id":2122,"omia_phene_id":4053,"omia_record_id":"OMIA:002122-9615","publication_ids":[109107,110807,117713,125725],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4053","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2000,"clinical_features":"Campbell et al. (2000): \"a 12-week-old male golden retriever puppy of small stature ... had multiple fractures in various stages of healing affecting the ribs and nearly every long bone. Dentinogenesis imperfecta was also present.\"","defect":true,"group_name":"Osteogenesis imperfecta, type III, COL1A1-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2126,"omia_phene_id":4063,"omia_record_id":"OMIA:002126-9615","publication_ids":[75740,94587],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4063","source_release":"retrieved-2026-09-12","summary":"See also entries for osteogenesis imperfecta for which likely causal variants have so far not been identied: <a href=\"../../../../../../OMIA000754/9615/\">'OMIA:000754-9615</a> : Osteogenesis imperfecta, generic' or types of the disease caused by variants in other genes, e.g., \"<a href=\"../../../../../../OMIA002112/9615/\">OMIA:002112-9615</a> Osteogenesis imperfecta, COL1A2-related' and '<a href=\"../../../../../../OMIA001483/9615/\">OMIA:001483-9615</a> Osteogenesis imperfecta, SERPINH1-related'","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200585"}],"characterised":true,"characterised_year":2017,"clinical_features":"The three affected German Spitz puppies reported in Caduff et al. (2017) showed a light brown (hazel) coat colour and blue eyes. Pigmentation of the coat and eyes became slightly darker with age. The owner reported that the affected puppies used to squint in bright sunlight (photophobia) and had difficulties to perceive hand signals in bright sunlight. Photophobia and mild to moderate visual deficits are also common in human patients with oculocutaneous albinism type II.","defect":true,"group_name":"Oculocutaneous albinism, OCA2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008746","iri":"http://purl.obolibrary.org/obo/MONDO_0008746","label":"oculocutaneous albinism type 2"}],"name":"","omia_group_id":2130,"omia_phene_id":4067,"omia_record_id":"OMIA:002130-9615","publication_ids":[117779,122792,124017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4067","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Eskimo Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200046"},{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"Borzoi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200197"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Cockapoo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200370"},{"name":"English Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200495"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Rat Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201125"},{"name":"Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201406"}],"characterised":true,"characterised_year":2017,"clinical_features":"Jaffey et al. (2017): \"Arterial blood gas analysis with co-oximetry identified methemoglobinemia concurrent with normal arterial oxygen tension at FIO2 = 0.21, which supported a nonrespiratory cause for cyanosis, tachypnea, and exercise intolerance.\"","defect":true,"group_name":"Methaemoglobinaemia, CYB5R3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009606","iri":"http://purl.obolibrary.org/obo/MONDO_0009606","label":"methemoglobinemia due to deficiency of methemoglobin reductase"}],"name":"NADH cytochrome B5 reductase deficiency, hereditary canine methaemoglobinaemia.","omia_group_id":2131,"omia_phene_id":4073,"omia_record_id":"OMIA:002131-9615","publication_ids":[117789,117890,121874,123548,125653,127595,127596,127597,127598,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4073","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"}],"characterised":true,"characterised_year":2017,"clinical_features":"","defect":true,"group_name":"Lethality, BTBD17-related","inheritance":{"code":"RL","name":"Autosomal recessive lethal"},"inheritance_text":"Meyers-Wallen et al. (2017): \"Because genotyping results at the 6048201 locus indicated that the G+G+ [homozygous for the G insertion] genotype was uncommon in XX DSD purebred pet dogs (3% G+G+, . . . ), but common in mixed breed XX DSD in the model pedigree (83% G+G+, . . . ), we hypothesized this genotype was deleterious in purebred dogs. Therefore, we genotyped pedigrees from purebred and crossbred breeding experiments in which the probability of G+G+ offspring varied from 0.25–0.5 . . .  . All offspring were born alive and birth weights within the same litter were similar. None of the offspring were G+G+ genotype, including crossbred offspring sired by males from the model pedigree that had previously produced G+G+ and G+/- XX DSD offspring (sires C734 and C752, . . .  ). These results indicated that embryonic lethality was associated with the G+G+ genotype in the GSHP genetic background.\"","mondo_terms":[],"name":"","omia_group_id":2132,"omia_phene_id":4075,"omia_record_id":"OMIA:002132-9615","publication_ids":[117797,125653,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4075","source_release":"retrieved-2026-09-12","summary":"See also 'OMIA:000901-9615 : XX difference of sexual development, generic in Canis lupus familiaris' for the association of the BTBD17 variant with differences in sexual development.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"}],"characterised":true,"characterised_year":2017,"clinical_features":"Brown et al. (2017): \"Relative to the unaffected dog, the mildly SD-affected NSDTR has cranial bowing of the radius. Radiographic changes in the more severely SD-affected NSDTR include moderate cranial bowing of the radius, physeal widening, and incongruity of the elbow joint with the shape of the semilunar notch of the ulna being elongated.\"","defect":true,"group_name":"Skeletal dysplasia, FGF4-retrogene-related","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"Bannasch et al. (2022): \"Using individual measurements of height at the shoulder, back length, head width, thorax depth and width, and thoracic limb measurements, we evaluated the combined effects of FGF4 retrogenes [FGF4L1 and FGF4L2] within\" two breeds that segregate both retrogenes, namely Alpine Dachsbracke and the Schweizer Niederlaufhund. They found that \"both retrogenes had significant effects reducing height at the shoulders and antebrachial length, with FGF4L1 having a much greater effect than FGF4L2. FGF4L1 alone influenced the degree of carpal valgus and FGF4L2 alone increased head width. Neither retrogene had an effect on thorax width or depth.\"","mondo_terms":[],"name":"","omia_group_id":2133,"omia_phene_id":4076,"omia_record_id":"OMIA:002133-9615","publication_ids":[3989,117799,117800,117801,119746,123130],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4076","source_release":"retrieved-2026-09-12","summary":"\"Two FGF4 retrogenes (FGF4L1 on chromosome 18 and FGF4L2 on chromosome 12) have been identified to cause dwarfism across many dog breeds. Some breeds are nearly homozygous for both retrogenes (e.g., Dachshunds) and others are homozygous for just one (e.g., Beagles and Scottish Terriers)\" (Bannasch et al., 2022)","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200034"}],"characterised":true,"characterised_year":2016,"clinical_features":"Evans et al. (2016): \"Affected dogs could independently ambulate, had generalized atrophy, and the myopathy was relatively non-progressive (Supplemental video). Atrophy of the cervical and dorsal thoracic limb muscles was noted with bilateral hypertrophy of the triceps muscles. Serum creatine kinase (CK) activities were mildly elevated. Electromyography (EMG) revealed spontaneous electrical activity, consisting mainly of fibrillation potentials, within the proximal appendicular muscles of the thoracic limbs and the cervical paraspinal musculature. Motor nerve conduction velocity (MNCV) testing showed a mild decrease in the latency of the tibial and ulnar nerves. Respiratory difficulties were not present.\"","defect":true,"group_name":"Nemaline myopathy, NEB-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009725","iri":"http://purl.obolibrary.org/obo/MONDO_0009725","label":"nemaline myopathy 2"}],"name":"","omia_group_id":2137,"omia_phene_id":4083,"omia_record_id":"OMIA:002137-9615","publication_ids":[117870],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4083","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cerebral amyloid angiopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2138,"omia_phene_id":4084,"omia_record_id":"OMIA:002138-9615","publication_ids":[117881],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4084","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Hunting Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200568"}],"characterised":true,"characterised_year":2018,"clinical_features":"Lepori et al. (2018): Clinical signs included \"exercise induced weakness, muscle pain, and suspected rhabdomyolysis\". Affected dogs have elevated serum creatine kinase (CK) and alanine aminotransferase (ALT) activities. An acylcarnitine profile from blood revealed an elevated tetradecenoylcarnitine (C14:1) peak suggesting the diagnosis of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD).","defect":true,"group_name":"Exercise induced metabolic myopathy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2140,"omia_phene_id":4089,"omia_record_id":"OMIA:002140-9615","publication_ids":[117897,120283,123814,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4089","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Akita (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200010"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Macrothrombocytopenia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2143,"omia_phene_id":4093,"omia_record_id":"OMIA:002143-9615","publication_ids":[117922,125867],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4093","source_release":"retrieved-2026-09-12","summary":"Hayakawa et al. (2018) provided the first report of this disorder in dogs, in 3 unrelated Akitas.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200255"},{"name":"Miniature Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200882"}],"characterised":true,"characterised_year":2018,"clinical_features":"\"Affected puppies show characteristic skin lesions on the feet and on the face, diarrhea, bronchopneumonia, and a failure to thrive. The skin lesions consist of erythema and tightly adherent scales, erosions or ulcerations with crusts involving primarily the feet, distal limbs, elbows, hocks, and muzzle. Later on, hyperkeratosis of the footpads and deformation of the nails occur. LAD affected dogs also show a coat color dilution in pigmented skin areas. An abnormally arched hard palate impacted with decayed, malodorous food is a characteristic clinical marker for the disease (Jezyk et al. 1986; McEwan, 1990; McEwan et al. 2000). LAD dogs are immunodeficient with a reduction in serum IgA levels and frequently suffer from skin infections with Malassezia or Candida (McEwan et al. 2001; McEwan et al. 2003). Affected puppies typically die before they reach an age of two years, either due to infections such as bronchopneumonia or because they are euthanized when their paw pad lesions become very severe and painful. They grow slower than their non-affected littermates and at the age of one year have about half the body weight and size of an unaffected dog (McEwan et al. 2000).\" [This summary was copied from Bauer et al. 2018] Although the clinical signs resemble zinc deficiency, it is not clear at all whether the disease has any relation to zinc metabolism (Bauer et al. 2018). Oral supplementation with zinc or intravenous zinc injections did not improve the condition (Jezyk et al. 1986).","defect":true,"group_name":"Acrodermatitis, lethal, MKLN1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Lethal acrodermatitis","omia_group_id":2146,"omia_phene_id":4098,"omia_record_id":"OMIA:002146-9615","publication_ids":[21218,111263,111278,111279,111280,111281,111282,111283,111284,117929,123125,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4098","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"}],"characterised":true,"characterised_year":2019,"clinical_features":"","defect":true,"group_name":"Deafness, bilateral, and vestibular dysfunction, MYO7A-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"DINGS","omia_group_id":2148,"omia_phene_id":4109,"omia_record_id":"OMIA:002148-9615","publication_ids":[27290,107256,113443,119195,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4109","source_release":"retrieved-2026-09-12","summary":"See also: <a href=\"https://omia.org/OMIA002196/9615/\">OMIA:002196-9615</a> : Deafness, unilateral and vestibular dysfunction, PTPRQ-related&nbsp; in Canis lupus familiaris (dog)","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Irish Soft Coated Wheaten Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200703"}],"characterised":true,"characterised_year":2018,"clinical_features":"","defect":true,"group_name":"Microphthalmia, isolated, with coloboma","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"Kaukonen et al. (2018): \"The four affected litters are related in a single pedigree, with a transmission pattern suggesting an autosomal recessive mode of inheritance\" (Kaukonen et al., 2018). However, the disease \"manifests only if both the dam and the offspring carry homozygous mutation\", i.e. this is a \"Recessive RBP4 defect with maternal transmission\" (Kaukonen et al., 2018)","mondo_terms":[{"id":"MONDO:0014635","iri":"http://purl.obolibrary.org/obo/MONDO_0014635","label":"microphthalmia, isolated, with coloboma 10"}],"name":"Microphthalmos","omia_group_id":2151,"omia_phene_id":4118,"omia_record_id":"OMIA:002151-9615","publication_ids":[118034,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4118","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2018,"clinical_features":"Lucot et al. (2018):\"Rottweiler NAD was first reported in the early 1980s and is characterized by a young adult age of onset with mild progression of clinical signs, typically including postural deficits, ataxia, hypermetria, intention tremor and nystagmus\". Some clinical signs will develop at an older age (3-5 years old), these include head bobbing, head tremor, nystagmus and menace deficit (Chrisman, 1992). [IT thanks DVM student Hedia Chan for contributions to this entry in April 2022]","defect":true,"group_name":"Neuroaxonal dystrophy, VPS11-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2152,"omia_phene_id":4119,"omia_record_id":"OMIA:002152-9615","publication_ids":[109274,109275,109276,109277,118048,123290,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4119","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Schnauzer-Beagle Cross (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201186"}],"characterised":true,"characterised_year":2011,"clinical_features":"Signs include fetal akinesia, scoliosis, arthrogryposis, cerebellar hypoplasia, pulmonary hypoplasia, respiratory failure, thinning of the patellar tendon, and spinal cord hypoplasia. The condition is lethal (Fyfe et al., 2010). ","defect":true,"group_name":"Neuroaxonal dystrophy, MFN2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Fetal-onset neuroaxonal dystrophy ","omia_group_id":2153,"omia_phene_id":4120,"omia_record_id":"OMIA:002153-9615","publication_ids":[109269,110228,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4120","source_release":"retrieved-2026-09-12","summary":"Neuroaxonal dystrophy is a disorder of CNS development with motor neuron degeneration characterized by fetal-onset neuromuscular dysfunction causing joint contracture and respiratory failure at birth. Affected animals present with scoliosis, arthrogryposis, cerebellar, pulmonary, and spinal cord hypoplasia, respiratory failure, and thinning of the patellar tendon. The condition is lethal, and was first observed in a colony of laboratory dogs following the mating of a purebred Giant Schnauzer with a Beagle. \r\nEdited by John C. Fyfe, D.V.M., Ph.D.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Karelian Bear Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200754"}],"characterised":true,"characterised_year":2019,"clinical_features":"Kyöstilä et al. (2019): \"The disease was recognized in seven KBD puppies with a variable presentation of skeletal hypomineralization, growth retardation, seizures and movement difficulties\"","defect":true,"group_name":"Hypophosphatasia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2162,"omia_phene_id":4144,"omia_record_id":"OMIA:002162-9615","publication_ids":[118527],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4144","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Galgo Español (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200557"},{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"},{"name":"Magyar Agár (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200842"},{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"}],"characterised":false,"characterised_year":null,"clinical_features":"Brunner et al. (2019): \"BTS is characterized by bilateral hair loss on the caudal and lateral thighs, but alopecia may extend to the distal hind legs, the ventral abdomen and the chest. In some cases even the ventral neck is involved. Dogs of any age and sex may be affected.\"","defect":true,"group_name":"Bald thigh syndrome","inheritance":null,"inheritance_text":"Brunner et al. (2019) concluded \"that BTS [bald thigh syndrome] is caused by structural HS [hair shaft] defects which are associated with the downregulation of genes and proteins essential for HS differentiation and HS assembly. The underlying genetic defect has not yet been identified and we suggest a complex mode of inheritance.\"","mondo_terms":[],"name":"","omia_group_id":2168,"omia_phene_id":4152,"omia_record_id":"OMIA:002168-9615","publication_ids":[118633,118634,118635],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4152","source_release":"retrieved-2026-09-12","summary":"Brunner et al. (2019): \"Bald thigh syndrome (BTS) is a hair loss disorder seen in Greyhounds and other sighthound breeds into which the Greyhound has been introgressed such as Whippets, Galgo Español, and Magyar Agár.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sudden acquired retinal degeneration syndrome, SARDS","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2169,"omia_phene_id":4153,"omia_record_id":"OMIA:002169-9615","publication_ids":[118636,118637,118638,118639,118640,118641,118642,118643,118644,118645,118646,118647,118648,118649,118650,124625,125462],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4153","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Eye colour, blue","inheritance":null,"inheritance_text":"Deane-Coe et al. (2018): \"The high proportion of blue-eyed heterozygotes in our analyses (53% of blue-eyed dogs) suggests that the duplication, if causal, is dominant in its phenotypic effect. However, the existence of 46 brown-eyed heterozygotes with similarly elevated Δ log R (P = 0.35 comparing blue and brown heterozygote distributions) suggests that one or more additional genetic factors may modify or mask the duplication’s effect on eye color (Fig 3; S8 Fig). This effect is not completely explained by an individual’s genotype at four previously characterized pigmentation genes (A, E, B, and K loci; S6 Table), although carriers of the duplication that also carry at least one copy of the dominant melanistic mask (Em) allele are significantly more likely to have brown eyes than duplication carriers without melanistic mask (P = 0.0018).\"","mondo_terms":[],"name":"","omia_group_id":1868,"omia_phene_id":4155,"omia_record_id":"OMIA:001868-9615","publication_ids":[118655],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4155","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ameloblastoma","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"Canine acanthomatous ameloblastomas (CAA)","omia_group_id":2171,"omia_phene_id":4158,"omia_record_id":"OMIA:002171-9615","publication_ids":[118584,119157,124278,126177,127367,128506],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4158","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Norwich Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200962"}],"characterised":true,"characterised_year":2018,"clinical_features":"Dillard et al. (2018) reported \"a novel lethal ciliopathy in Norwich Terrier puppies that was diagnosed at necropsy and characterized as diffuse cystic renal disease and hepatic fibrosis\"","defect":true,"group_name":"Diffuse cystic renal dysplasia and hepatic fibrosis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Dillard et al. (2018): \"The pedigree of the affected puppies was suggestive of an autosomal recessive inheritance\"","mondo_terms":[],"name":"","omia_group_id":2173,"omia_phene_id":4160,"omia_record_id":"OMIA:002173-9615","publication_ids":[118659],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4160","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":true,"characterised_year":2018,"clinical_features":"Soler Arias et al. (2018): \"The ITD was recognized by the absence of uptake of technetium-99m in the salivary glands (sg) and goiter observed by scintigraphy. In the same scan, radiopharmaceutical uptake was found in the anterior mediastinum of both [affected] dogs and in the right axillary lymph node in the oldest dog. A follicular thyroid carcinoma was diagnosed by histopathology after thyroidectomy of the older dog. An adenomatous goiter with ectopic thyroid tissue, and degenerative changes in myocardium were the findings after necropsy in the youngest dog.\"","defect":true,"group_name":"Hypothyroidism, congenital dyshormonogenic, with goiter, SLC5A5-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Soler Arias et al. (2018): \"Congenital dyshormonogenic hypothyroidism with goiter in this family [of Shih-Tzu] is an autosomal recessive trait.\"","mondo_terms":[{"id":"MONDO:0020716","iri":"http://purl.obolibrary.org/obo/MONDO_0020716","label":"familial thyroid dyshormonogenesis 1"}],"name":"","omia_group_id":2174,"omia_phene_id":4161,"omia_record_id":"OMIA:002174-9615","publication_ids":[118661,124288],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4161","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Akita (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200010"},{"name":"American Akita (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200027"}],"characterised":true,"characterised_year":2019,"clinical_features":"","defect":true,"group_name":"Amelogenesis imperfecta, ACP4-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0015008","iri":"http://purl.obolibrary.org/obo/MONDO_0015008","label":"amelogenesis imperfecta, type 1J"}],"name":"","omia_group_id":2177,"omia_phene_id":4164,"omia_record_id":"OMIA:002177-9615","publication_ids":[118813,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4164","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2019,"clinical_features":"Mäkeläinen et al. (2019): \"The affected sib-pair . . . was visually impaired under both daylight and dimlight conditions when examined at 10 years of age. Their pupils were dilated under daylight conditions and pupillary light and dazzle reflexes were abnormal, whereas menace responses were present. On indirect ophthalmoscopy, the tapetal reflectivity varied between normal to grayish hyporeflection when the indirect ophthalmoscopy lens was tilted slightly back and forth, both in the visual streak, as well as in the more peripheral parts of the tapetal fundus in both eyes of the affected dogs. The visual streak is an area of high photoreceptor cell density in the canine retina, located superior to the optic disc and extending horizontally from the nasal to the temporal region . . . . Furthermore, a mild to moderate vascular attenuation was observed, as seen in the fundus photograph, taken at the age of 10 years, of the affected male (LAB4) and compared to a fundus photograph of an unaffected, age-matched Labrador retriever dog (LAB27) . . . . These ophthalmoscopic findings were symmetrical between the eyes of the affected dogs, diffusely spread over the tapetal fundus and not strictly confined to the visual streak or area centralis.\" Ekesten et al. (2022) studied \"retinal appearance and morphology in Labrador retrievers (LRs) heterozygous and homozygous for an ABCA4 loss-of-function mutation. ... Abnormal appearance and morphology in the fovea equivalent are present in juvenile ABCA4InsC/InsC. In the older affected LRs, the visual streak and then the peripheral retina also develop an abnormal appearance. Vision deteriorates slowly, but some vision is retained throughout life. Older heterozygotes may show a mild retinal phenotype but no obvious visual impairment.\"","defect":true,"group_name":"Stargardt disease 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0019353","iri":"http://purl.obolibrary.org/obo/MONDO_0019353","label":"Stargardt disease"}],"name":"Retinal atrophy - generalized; retinal atrophy, ABCA4-related","omia_group_id":2179,"omia_phene_id":4167,"omia_record_id":"OMIA:002179-9615","publication_ids":[111394,111397,118863,118867,123549,125219,129719,133084],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4167","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200034"},{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Boston Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200204"},{"name":"Dogue de Bordeaux (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200450"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"}],"characterised":true,"characterised_year":2018,"clinical_features":"Mansour et al. (2018): \"One group of three breeds (Bulldog, French Bulldog and Boston Terrier) is characterized by a wide head, short muzzle, widely spaced eyes, small size and abnormalities of the vertebral bones of the back and tail. These breeds are referred to as the screw tail breeds since the characteristic that is unique and easy to see in these breeds is their shortened and kinked tails.\" Niskanen et al. (2021): \"The DVL2 variant segregates in a recessive manner with caudal vertebral malformations and has incomplete and variable penetrance for thoracic vertebral malformations (Mansour et al. 2018). ... With CT examinations in American Staffordshire Terriers, we confirmed that the DVL2 allele is associated with caudal vertebral malformations and a brachycephalic phenotype. We also hypothesize that the variant may be linked to additional health conditions, including brachycephalic obstructive airway syndrome and congenital heart defects.\"","defect":true,"group_name":"Screw tail","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Mansour et al. (2018): \"Segregation of the caudal vertebral column malformations and genotype at DVL2 was consistent with a fully penetrant recessive mode of inheritance in Boston Terriers, Shih Tzus, Pit Bulls and mixed breeds ... . Segregation of the thoracic vertebral malformations was consistent with a recessive mode of inheritance with variable penetrance between breeds. In order to evaluate the molecular contribution to brachycephalic skull shape, the DVL2 mutant breeds were genotyped for the previously identified brachycephaly associated Line insertion affecting SMOC 2 splicing. Bulldogs and French Bulldogs were homozygous for the variant and the Boston Terriers had an allele frequency of 90.3% ... . Similar allele frequency for the BMP3 missense mutation was also reported for these three breeds indicating that they are homozygous or have a high allele frequency for three mutations that affect head shape [Schoenebeck et al., 2012].","mondo_terms":[],"name":"Robinow-like syndrome; curly tail","omia_group_id":2186,"omia_phene_id":4174,"omia_record_id":"OMIA:002186-9615","publication_ids":[108432,113304,114090,118885,118901,118902,121263,123340,127232,127287,127576,127577,127833,129493,133323],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4174","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2019,"clinical_features":"Jolly et al. (2019): \"A neurological disease was investigated in 3 German Shepherd pups from the same litter that failed to grow normally, appeared stiff, were reluctant to move, and were deaf. They developed intermittent seizures and ataxia and had proprioceptive defects.\"","defect":true,"group_name":"Mannosidosis, beta","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Jolly et al. (2019): \"The variant was validated using PCR and Sanger sequencing of DNA from related and unrelated dogs. The 2 parents and 1 littermate were heterozygous for the mutation, the 2 affected dogs (case Nos. 1 and 2) were homozygous for the mutation, and 2 other dogs from the same breeder but of different parentage were homozygous wild-type . . .  . An unrelated German Shepherd dog was also homozygous wild-type.\"","mondo_terms":[],"name":"","omia_group_id":626,"omia_phene_id":4184,"omia_record_id":"OMIA:000626-9615","publication_ids":[119060,119811,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4184","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Alpine Dachsbracke (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200023"}],"characterised":true,"characterised_year":2019,"clinical_features":"Letko et al. (2019): \"Clinical signs of cerebellar dysfunction in the four puppies (one male, three females) were observed immediately when their normal littermates started to move in a coordinated fashion, so after approximately three weeks of age. The affected dogs exhibited ataxia, tremors, loss of balance, falling and other movement problems . . .   . Furthermore, the dog breeder reported that the vision of the affected dogs might be impaired. The severity of the clinical signs resulted in euthanasia of all cases by the age of 10–12 weeks.\"","defect":true,"group_name":"Ataxia, spinocerebellar, SCN8A-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2194,"omia_phene_id":4197,"omia_record_id":"OMIA:002194-9615","publication_ids":[119209,125285,125653,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4197","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Welsh Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201411"}],"characterised":true,"characterised_year":2019,"clinical_features":"Yost et al. (2019): \"Clinical evaluation of the proband and four littermates demonstrated echocardiographically evident left ventricular dilation, systolic dysfunction and ventricular arrhythmias . . .  . One affected female littermate is still alive at 44 months of age and is managed with routine medical care including an ace inhibitor (enalapril), inodilator (pimobendan) and an antiarrhythmic (sotalol).\"","defect":true,"group_name":"Cardiomyopathy, dilated, PLN-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012362","iri":"http://purl.obolibrary.org/obo/MONDO_0012362","label":"dilated cardiomyopathy 1P"}],"name":"","omia_group_id":2195,"omia_phene_id":4198,"omia_record_id":"OMIA:002195-9615","publication_ids":[119129,122775,123248,123426,125623],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4198","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"}],"characterised":true,"characterised_year":2018,"clinical_features":"","defect":true,"group_name":"Deafness, unilateral and vestibular dysfunction, PTPRQ-related'","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2196,"omia_phene_id":4199,"omia_record_id":"OMIA:002196-9615","publication_ids":[117997,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4199","source_release":"retrieved-2026-09-12","summary":"See also: <a href=\"https://www.omia.org/OMIA002148/9615/\">OMIA:002148-9615</a> : Deafness, bilateral, and vestibular dysfunction, MYO7A-related&nbsp;","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2019,"clinical_features":"","defect":false,"group_name":"Coat colour, phaeomelanin dilution, MFSD12-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"This entry describes the Intensity (I) locus; sometimes called the Intense (Int) locus","omia_group_id":2197,"omia_phene_id":4200,"omia_record_id":"OMIA:002197-9615","publication_ids":[108339,109460,119226,119227,119228,119229,119267,121693,122792,124017,125653,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4200","source_release":"retrieved-2026-09-12","summary":"Hédan et al. (2019): \"Thanks to a multiple step GWAS approach, we confirmed that solid white coat color in dogs may result from the absence of eumelanin (e/e at the MC1R locus) and an extreme dilution of phaeomelanin, confirming the hypothesis of Sponenberg and Rothschild [2001] on the existence of an I locus and later, the work of Schmutz and Berryere [2007; J. Heredity].\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"}],"characterised":true,"characterised_year":2019,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, NECAP1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2198,"omia_phene_id":4202,"omia_record_id":"OMIA:002198-9615","publication_ids":[119251,125219,125653,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4202","source_release":"retrieved-2026-09-12","summary":"See also <a href=\"../../../../../../OMIA003061/9615/\">OMIA:003061-9615</a> : Leukoencephalomyelopathy, NECAP1-related in Canis lupus familiaris (dog) for a different phenotype caused by variants in the same gene.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Coat, double vs single","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2199,"omia_phene_id":4203,"omia_record_id":"OMIA:002199-9615","publication_ids":[119270,119271],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4203","source_release":"retrieved-2026-09-12","summary":"As summarised by Whitaker and Ostrander (2019), \"Double-coated dogs have two layers of hair: the courser primary or guard hairs which aid in the prevention of superficial injuries, repel excess moisture, and provide the primary coloration and texture patterns; and the more numerous secondary hairs or undercoat which are soft and downy in appearance and protect dogs from extreme temperatures. Wolves, the closest living ancestor to the modern domestic dog . . .  , also have both a primary coat and undercoat, and this is assumed to be the ancestral trait. Single-coated dog breeds only have primary hairs and thus usually shed less because the undercoat is more prone to falling out with the change of season. There are roughly equal numbers of breeds with double- and single-coats distributed throughout the 161 breeds for which extensive phylogenetic studies have been done [Parker et al., 2017]. Some breed groups, such as those of Alpine origin, have predominantly one phenotype, in this case the double coat.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"Boston Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200204"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Italian Cane Corso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200712"},{"name":"Lhasa Apso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200824"},{"name":"Neapolitan Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200930"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Eyelid gland, third, prolapse of","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Cherry eye","omia_group_id":359,"omia_phene_id":4208,"omia_record_id":"OMIA:000359-9615","publication_ids":[119336,124104,125219,127247,127248,129248],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4208","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":false,"characterised_year":2019,"clinical_features":"Bauer et al. (2019): \"The dog was referred because of fragile skin that teared or bruised easily even from minor injuries, leading to severe wounds that healed poorly. According to the owner, the skin fragility had been present since the dog was a puppy. At the time of examination, the dog was 21 months old and appeared in a good general health condition. Neither wounds nor scars were present, but the skin was hyperextensible\".","defect":true,"group_name":"classic-like Ehlers-Danlos syndrome (clEDS), TNXB-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"As reported by Bauer et al. (2019): \"Each variant allele was transmitted from one of the case’s parents, consistent with compound heterozygosity.\"","mondo_terms":[{"id":"MONDO:0011670","iri":"http://purl.obolibrary.org/obo/MONDO_0011670","label":"Ehlers-Danlos syndrome due to tenascin-X deficiency"}],"name":"classic-like Ehlers-Danlos syndrome (clEDS), TNXB-related; Ehlers-Danlos syndrome, classic-like, 1","omia_group_id":2203,"omia_phene_id":4210,"omia_record_id":"OMIA:002203-9615","publication_ids":[119725,122707,122808,123365],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4210","source_release":"retrieved-2026-09-12","summary":"This phene has been renamed from \"Ehlers-Danlos syndrome, classic-like, 1\" to \"classic-like Ehlers-Danlos syndrome (clEDS), TNXB-related\" in OMIA on the basis of the review on human Ehlers-Danlos syndromes by Malfait et al. (2020) [2/6/2022].","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Collie Rough (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200376"}],"characterised":true,"characterised_year":2019,"clinical_features":"Hug et al. (2019): \"The clinical symptoms were similar to primary ciliary dyskinesia (PCD) [OMIA 001540-9615]. However, the affected dogs did not carry any known pathogenic PCD variants\"","defect":true,"group_name":"Recurrent inflammatory pulmonary disease","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Hug et al. (2019): \"Pedigree analysis suggested a recessive mode of inheritance\".","mondo_terms":[],"name":"","omia_group_id":2205,"omia_phene_id":4215,"omia_record_id":"OMIA:002205-9615","publication_ids":[119689],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4215","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"}],"characterised":true,"characterised_year":2019,"clinical_features":"Anderegg et al. (2019): \"severe bronchial lung pattern and bronchiectasis on thoracic radiographs in both dogs  . . .  Direct rhinoscopy and bronchoscopy revealed hyperemic mucosa, medium to large amount of mucopurulent secretions along the upper and lower airway tracts and moderate to severe turbinate lysis in the nasal cavity in both dogs  . . .  Bronchoalveolar lavage fluid was compatible with chronic active purulent bronchopneumonia.\"","defect":true,"group_name":"Ciliary dyskinesia, primary, NME5-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2206,"omia_phene_id":4216,"omia_record_id":"OMIA:002206-9615","publication_ids":[119917],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4216","source_release":"retrieved-2026-09-12","summary":"Several types of primary ciliary dyskinesia exist. See also 'OMIA001540-9615 : Ciliary dyskinesia, primary, CCDC39-related in Canis lupus familiaris' and 'OMIA000573-9615 : Ciliary dyskinesia, primary, generic in Canis lupus familiaris'.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"}],"characterised":true,"characterised_year":2019,"clinical_features":"Gentilini et al. (2019): \"The affected dogs showed a platelet adhesion defect characterized by macrothrombocytopenia with variable platelet counts resembling human Bernard-Soulier syndrome (BSS). Furthermore, the lack of functional GPIb-IX-V was demonstrated by immunocytochemistry.\"","defect":true,"group_name":"Bernard-Soulier syndrome, type C","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009276","iri":"http://purl.obolibrary.org/obo/MONDO_0009276","label":"Bernard-Soulier syndrome"}],"name":"","omia_group_id":2207,"omia_phene_id":4217,"omia_record_id":"OMIA:002207-9615","publication_ids":[119918,125381],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4217","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2019,"clinical_features":"","defect":true,"group_name":"Eye malformation, SIX6-related","inheritance":{"code":"ADIP","name":"Autosomal dominant with incomplete penetrance"},"inheritance_text":"Hug et al. (2019): \"All cases traced back to the same male ancestor, but had quite diverse maternal lineages . . . . Seven out of 28 recorded puppies were affected and males and females were affected in equal proportions. As we could not identify any common ancestors in the maternal lines of the cases, we hypothesized an autosomal dominant inheritance with incomplete penetrance as the most likely mode of inheritance.\"","mondo_terms":[],"name":"Congenital eye malformation; microphthalmos","omia_group_id":2208,"omia_phene_id":4218,"omia_record_id":"OMIA:002208-9615","publication_ids":[119654,125219,129719,132386],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4218","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Alapaha Blue Blood Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200014"},{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"Catahoula Leopard Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200298"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"}],"characterised":true,"characterised_year":2019,"clinical_features":"Jaffy et al. (2019): \"an 8‐week‐old male Doberman Pinscher . . . was presented to South Willamette Veterinary Clinic for evaluation of cutaneous wounds. The physical examination identified pain, hyper‐mobility and moderate effusion in the carpal, tarsal and stifle joints. In addition, bilateral ocular chemosis and elevation of the nictitating membranes were noted. The skin had several wounds in various stages of healing, and several small, atrophic scars from previous wounds that had healed by secondary intention were apparent. The ventral abdomen had a fresh linear 6‐cm‐long wound. The skin was noticeably loose and hyper‐elastic\". Jaffey et al. (2022): The clinical features of these [Pit Bull Terrier and an Alapaha Blue Blood Bulldog] dogs [with the 11:2280117delC, CanFam3.1 deletion] and 4 others with the same homozygous deletion included multifocal wounds, atrophic scars, joint hypermobility, narrowed palpebral fissures, skin hyperextensibility, and joint-associated swellings. Due to severe skin fragility, the owners of all 6 dogs elected euthanasia before the dogs reached 13 weeks of age. Cross sections of collagen fibrils in post-mortem dermal tissues from 2 of these dogs showed hieroglyphic-like figures similar to those from cases of severe dermatosparaxis in other species. ... [The Catahoula Leopard Dog with the 11:2491238G&gt;A; p.(Arg966His) variant] exhibited multifocal wounds, atrophic scars, and joint hypermobility, but has survived for at least 9 years.\"","defect":true,"group_name":"Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009161","iri":"http://purl.obolibrary.org/obo/MONDO_0009161","label":"Ehlers-Danlos syndrome, dermatosparaxis type"}],"name":"Dermatosparaxis Ehlers Danlos syndrome (dEDS), ADAMTS2-related; Ehlers-Danlos syndrome, type VII (Dermatosparaxis)","omia_group_id":328,"omia_phene_id":4228,"omia_record_id":"OMIA:000328-9615","publication_ids":[119639,122707,122808,123112,123125,123365,123915,129481],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4228","source_release":"retrieved-2026-09-12","summary":"This phene has been renamed from \"Ehlers-Danlos syndrome, type VII (Dermatosparaxis)\" to \"Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related\" in OMIA on the basis of the review on human Ehlers-Danlos syndromes by Malfait et al. (2020) [2/6/2022].","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Dachshund, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200408"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Maltese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200856"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"}],"characterised":true,"characterised_year":2019,"clinical_features":"\"On physical examination, evidence of generalized joint hyperextensibility with a range of motion greater than 180° ... and skin hyperextensibility ... and fragility was noted\" in an affected Labrador Retriever (Bauer et al. 2019). Two affected mixed breed dogs also showed marked skin hyperextensibility. Bruising and wounds were noted to occur after only mild trauma in these dogs. Joint hypermobility, a typical sign for classical Ehlers-Danlos, was not investiagted in the affected mixed breed dogs (Bauer et al. 2019).<br>Bullock et al. (2024) reported 7 affected dogs from different breeds: \"The most common clinical signs included fragile skin (n = 7), hyperextensible skin (n = 7), joint hypermobility (n = 6), and atrophic scars (n = 5). The median age at last follow-up or death was 12 years (range, 6.5-14 years). Ultrastructural abnormalities in dermal collagen differed among dogs with different <em>COL5A1</em> variants.\"<br>Vizcaíno-Revés et al. (2025) report&nbsp; bilateral cranial cruciate rupture as an additional clinical finding in a Maltese dog affected with classical Ehlers–Danlos Syndrome.","defect":true,"group_name":"classical Ehlers-Danlos syndrome (cEDS), COL5A1-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0019567","iri":"http://purl.obolibrary.org/obo/MONDO_0019567","label":"Ehlers-Danlos syndrome, classic type, 1"}],"name":"classical Ehlers-Danlos syndrome (cEDS), COL5A1-related; Ehlers-Danlos syndrome, classic type, 1","omia_group_id":2165,"omia_phene_id":4237,"omia_record_id":"OMIA:002165-9615","publication_ids":[119991,122707,122808,123125,123365,128127,132127],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4237","source_release":"retrieved-2026-09-12","summary":"This phene has been renamed from \"Ehlers-Danlos syndrome, classic type, 1\" to \"classical Ehlers-Danlos syndrome (cEDS), COL5A1-related\" in OMIA on the basis of the review on human Ehlers-Danlos syndromes by Malfait et al. (2020) [2/6/2022].","taxon_id":9615,"upheno_terms":[{"id":"HP:0000974","iri":"http://purl.obolibrary.org/obo/HP_0000974","label":"hyperextensible skin"},{"id":"HP:0001030","iri":"http://purl.obolibrary.org/obo/HP_0001030","label":"fragile skin"},{"id":"HP:0001075","iri":"http://purl.obolibrary.org/obo/HP_0001075","label":"atrophic scar"},{"id":"HP:0001382","iri":"http://purl.obolibrary.org/obo/HP_0001382","label":"joint hypermobility"},{"id":"MP:0003089","iri":"http://purl.obolibrary.org/obo/MP_0003089","label":"decrease skin tensile strength"},{"id":"MP:0005421","iri":"http://purl.obolibrary.org/obo/MP_0005421","label":"loose skin"},{"id":"MP:0008438","iri":"http://purl.obolibrary.org/obo/MP_0008438","label":"abnormal cutaneous collagen fibril morphology"},{"id":"MP:0030797","iri":"http://purl.obolibrary.org/obo/MP_0030797","label":"joint laxity"},{"id":"UPHENO:0050422","iri":"http://purl.obolibrary.org/obo/UPHENO_0050422","label":"abnormal collagen fibril organization"}]}
{"breeds":[{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"}],"characterised":false,"characterised_year":null,"clinical_features":"Bjerkås (1977): \"The symptoms started at the age of 3-6 months and were dominated by visual deficiency and/or progressive locomotive abnormalities.\"","defect":true,"group_name":"Leukodystrophy, cavitating","inheritance":null,"inheritance_text":"Bjerkås (1977): \"The disease is probably transmitted by autosomal recessive inheritance\".","mondo_terms":[],"name":"","omia_group_id":2214,"omia_phene_id":4239,"omia_record_id":"OMIA:002214-9615","publication_ids":[1023,7280,120051],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4239","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Schnauzer, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201189"}],"characterised":true,"characterised_year":2019,"clinical_features":"Störk et al. (2019): \"Clinical signs occurred shortly after birth or started at an age of under 4 weeks and included apathy, dysphoric vocalization, hypermetric ataxia, intension tremor, head tilt, circling, proprioceptive deficits, seizures and ventral strabismus consistent with a diffuse intracranial lesion. Magnetic resonance imaging revealed a diffuse white matter disease without mass effect.\"","defect":true,"group_name":"Leukodystrophy, TSEN54-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Störk et al. (2019): \"The occurrence of leukodystrophy in multiple consecutive litters from related parents suggested an inherited disease. Pedigree analysis of the four affected puppies no. 1–4 revealed several inbreeding loops and was suggestive for a monogenic autosomal recessive inheritance\".","mondo_terms":[],"name":"","omia_group_id":2215,"omia_phene_id":4240,"omia_record_id":"OMIA:002215-9615","publication_ids":[120053,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4240","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Pseudomyotonia, congenital","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010977","iri":"http://purl.obolibrary.org/obo/MONDO_0010977","label":"Brody myopathy"}],"name":"","omia_group_id":1464,"omia_phene_id":4246,"omia_record_id":"OMIA:001464-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4246","source_release":"retrieved-2026-09-12","summary":"Redundant - Information previously listed here relating to paradoxical pseudomyotonia has been moved to <a href=\"https://omia.org/OMIA002645/9615/\">OMIA:002645-9615</a> Pseudomyotonia, paradoxical, SLC7A10-related","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Miniature Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200882"}],"characterised":true,"characterised_year":2019,"clinical_features":"Hadji Rasouliha et al. (2019): \"Laryngeal paralysis (LP) is the inability to abduct the arytenoid cartilages during inspiration, resulting in a partial to complete airway obstruction and consequent respiratory distress. Different forms of LP with varying age of onset exist in dogs. Hereditary early onset forms were reported in several dog breeds. In most breeds, hereditary LP is associated with other neurologic pathologies.\"","defect":true,"group_name":"Laryngeal paralysis, RAPGEF6-related","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2222,"omia_phene_id":4251,"omia_record_id":"OMIA:002222-9615","publication_ids":[109480,120322],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4251","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200090"}],"characterised":true,"characterised_year":2020,"clinical_features":"O'Brien et al. (2020): \"In an Australian Kelpie breeding population, 17 puppies presented with intestinal lipid malabsorption. Juvenile dogs exhibited stunted postnatal growth, steatorrhea, abdominal distension and a wiry coat.\"","defect":true,"group_name":"Lipid malabsorption, ACSL5-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"O'Brien et al. (2020): \"A PCR-based diagnostic test was developed and confirmed fully penetrant autosomal recessive mode of inheritance. . . . Of 19 samples tested, nine were homozygous for the deletion, all of which exhibited signs of disease (Fig. S4). In the controls, six samples were homozygous wild type and four were heterozygous for the variant. Dogs heterozygous for the variant were asymptomatic but came from families known to produce offspring with the disease phenotype.\"","mondo_terms":[],"name":"","omia_group_id":2226,"omia_phene_id":4254,"omia_record_id":"OMIA:002226-9615","publication_ids":[120981],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4254","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2020,"clinical_features":"","defect":false,"group_name":"Coat colour, phaeomelanin dilution, KITLG-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2228,"omia_phene_id":4258,"omia_record_id":"OMIA:002228-9615","publication_ids":[120364,121426,122792,124017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4258","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Fecundity, generic","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1943,"omia_phene_id":4281,"omia_record_id":"OMIA:001943-9615","publication_ids":[120412],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4281","source_release":"retrieved-2026-09-12","summary":"Detailed information about the GDF9 variant described by Torrecilha et al. (2020) has been moved to: OMIA 02362-9615 Fecundity, GDF9-related.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"Dierks et al. (2017): \"Seven male Labrador retriever puppies from four different litters were identified with a brachycephalic-like face and skull, associated with low birth weight, severe growth retardation, and reduced abilities to crawl and suckle, which were not compatible with survival.\"","defect":true,"group_name":"Facial dysmorphia","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"Dierks et al. (2017): \"Pedigree analysis supported an X-linked recessive mode of inheritance.\"","mondo_terms":[],"name":"lethal brachycephalic-like facial dysmorphia","omia_group_id":2239,"omia_phene_id":4286,"omia_record_id":"OMIA:002239-9615","publication_ids":[120423,123256],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4286","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Norwegian Buhund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200953"}],"characterised":true,"characterised_year":2020,"clinical_features":"Affected Norwegian Buhunds generally present as puppies with slowly progressing abnormalities in gait and balance. There is generally no irregularity of behaviour or demeanour, however they have a broad-based stance and hypermetria in all limbs, truncal ataxia and persistent head tremors (Mari et al., 2018). A bilaterally reduced menace response may be present, however no other abnormalities are likely on physical exam, CBC or serum biochemistry, and no abnormalities have been noted on MRI imaging or CSF sampling in known cases (Mari et al., 2018).\r\nIT thanks DVM student Teresa McIntyre, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Ataxia, cerebellar, KCNIP4-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Progressive cerebellar ataxia","omia_group_id":2240,"omia_phene_id":4287,"omia_record_id":"OMIA:002240-9615","publication_ids":[120429,120430,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4287","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":true,"characterised_year":2016,"clinical_features":"","defect":true,"group_name":"Craniomandibular osteopathy, SLC37A2-related","inheritance":{"code":"ADIP","name":"Autosomal dominant with incomplete penetrance"},"inheritance_text":"Padgett and Mostosky (1965) concluded autosomal recessive inheritance in the West Highland White terrier breed.\r\nHytönen et al. (2016) reported that \"The determination of the exact mode of inheritance in dogs [in West Highland White Terriers, Cairn Terriers and Scottish Terriers] is not straightforward due to the nature of the leaky splice variant and mild self-limiting phenotype that may remain unobserved and prevent retrospective diagnosis. We found some dogs that were homozygous for the variant but had no reported clinical signs. However, we observed a considerable level of the wild-type SLC37A2 transcript in homozygous dogs in the peripheral blood due to the splicing leakage, suggesting that the leaky expression is sufficient to avoid a clinical phenotype in some cases. We also found several heterozygous dogs that had developed CMO. We found that heterozygous dogs had lower levels of wild-type SLC37A2 transcript compared to the unaffected dogs with individual variation of expression between dogs. This result suggested a dominant disease with incomplete penetrance that could help to explain the reported differences in the severity and duration of CMO among the affected dogs, although alternative models of inheritance cannot be completely ruled out yet.\"","mondo_terms":[],"name":"","omia_group_id":2244,"omia_phene_id":4295,"omia_record_id":"OMIA:002244-9615","publication_ids":[49731,102023,115089,115094,115095,115098,116681,116682,117295,120448],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4295","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Bull Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200253"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":false,"characterised_year":null,"clinical_features":"Letko et a. (2020): \"persistent and sharp pain when opening mouth, painful swelling of the jaw, fever, and in some cases also severe pain of ulna and radius bones.\"","defect":true,"group_name":"Calvarial hyperostotic syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2245,"omia_phene_id":4296,"omia_record_id":"OMIA:002245-9615","publication_ids":[112523,115090,120448,120454,120455,120457,129342],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4296","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Height, LCORL-associated body-size variation","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2246,"omia_phene_id":4297,"omia_record_id":"OMIA:002246-9615","publication_ids":[119103,120620,129174,130364],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4297","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Saluki (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201171"}],"characterised":true,"characterised_year":2020,"clinical_features":"Vernau et al. (2020): \"Magnetic resonance imaging showed a diffuse, marked reduction in cerebral cortical thickness, and symmetrical T2 hyperintensity in specific brain regions. Cerebral cortical atrophy with vacuolation (status spongiosus) was noted on necropsy.\"","defect":true,"group_name":"Succinic semialdehyde dehydrogenase deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010083","iri":"http://purl.obolibrary.org/obo/MONDO_0010083","label":"succinic semialdehyde dehydrogenase deficiency"}],"name":"","omia_group_id":2250,"omia_phene_id":4308,"omia_record_id":"OMIA:002250-9615","publication_ids":[120483,120909,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4308","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Airedale Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200008"}],"characterised":true,"characterised_year":2020,"clinical_features":"Dillard et al. (2020): \"All 25 affected puppies were born at term with normal delivery. One was stillborn. Six (24%) were lethargic at birth, refused to suckle and developed dyspnea or tachypnea and died or were humanely euthanized at 4–18 hours later. The rest of the puppies (72%) were initially normal until the difficulties in breathing started. Most of these puppies died during one to four days (64%), except one puppy that survived for 7 days and one up to 4 weeks. Full necropsy was performed for the 25 puppies and the main lesion was in the lungs. The lungs of all the puppies, except the 4-week-old, were edematous, congested and appeared poorly aerated . . .  . At four weeks the lungs had a rubbery texture and marked emphysema . . .  . No significant macroscopic changes were detected in other organs.\"","defect":true,"group_name":"Surfactant metabolism dysfunction, pulmonary","inheritance":{"code":"RL","name":"Autosomal recessive lethal"},"inheritance_text":"Dillard et al. (2020) genotyped \"20 additional adult, non-affected AT dogs\" for the LAMP3 variant. \"As they were screened, one of these dogs, a dam that had had a litter that included affected puppies, turned out to be homozygous for the LAMP3 variant . . .  . At the time of sampling, the dam was 6 years of age and, according to its owner, had been clinically healthy all its life without any signs of respiratory disease. To study the possible differences of the variants in the associated locus between the dam and the affected puppy, the whole genome of the dam was also sequenced and compared with the affected puppy. This analysis did not reveal any dam-specific heterozygous variants, which would have indicated that our LAMP3 variant is not causal but instead in LD with the true disease-causing variant. In contrast, this result suggests that the dam may have an unknown protective variant\".","mondo_terms":[],"name":"Fatal neonatal interstitial lung disease","omia_group_id":2251,"omia_phene_id":4309,"omia_record_id":"OMIA:002251-9615","publication_ids":[120487],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4309","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Progressive retinal atrophy, Miniature Schnauzer, type 1 (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"This entry has been merged with OMIA 001311-9615 : Photoreceptor dysplasia in Canis lupus familiaris [18/01/2023].","omia_group_id":2252,"omia_phene_id":4310,"omia_record_id":"OMIA:002252-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4310","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, Miniature Schnauzer, type 2","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2253,"omia_phene_id":4311,"omia_record_id":"OMIA:002253-9615","publication_ids":[120494],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4311","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2019,"clinical_features":"Yamanaka et al. (2019) reported a single affected '6-year-old spayed, mixed-breed dog ... . The dog was tentatively diagnosed with pemphigus foliaceus at a private hospital 9 months previously. The dog had been treated with prednisolone ... for approximately 3 months. After the dog was started on the medication, polyuria, polydipsia, and abdominal distension were observed. The pemphigus foliaceus was neither ameliorated nor aggravated. After prednisolone withdrawal, calcinosis cutis was observed on the dorsal skin. Two months later ... the adverse reaction due to glucocorticoid therapy had already disappeared, except for extremely severe calcinosis cutis over the entire dorsal skin ... .\" The authors diagnosed glucocorticoid resistance in this dog with iatrogenic Cushing syndrome.","defect":true,"group_name":"Glucocorticoid resistance","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014421","iri":"http://purl.obolibrary.org/obo/MONDO_0014421","label":"glucocorticoid resistance"}],"name":"","omia_group_id":2254,"omia_phene_id":4312,"omia_record_id":"OMIA:002254-9615","publication_ids":[120499,124966],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4312","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"}],"characterised":true,"characterised_year":2020,"clinical_features":"The clinical phenotype is unspecific and variable. In the study of Gurtner et al. (2020), three affected puppies were studied, which all died at 8 weeks of age. A few days prior to death they showed various clinical signs such as vomiting and dyspnea (n = 2) or lethargy and muscle twitching (n = 1) (Gurtner et al. 2020).","defect":true,"group_name":"Cardiomyopathy and juvenile mortality","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Gurtner et al. (2020): \"Pedigree analysis suggested a monogenic autosomal recessive inheritance.\"","mondo_terms":[],"name":"","omia_group_id":2256,"omia_phene_id":4314,"omia_record_id":"OMIA:002256-9615","publication_ids":[120524,125159],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4314","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tetragametic chimerism (including Freemartin)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":393,"omia_phene_id":4315,"omia_record_id":"OMIA:000393-9615","publication_ids":[120525,125933,125934],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4315","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Coat colour, ticked","inheritance":null,"inheritance_text":"Based on an analysis of coat-colour inheritance in more than 2,000 dogs in his Bar Harbor colony and on data collected on around 20,000 dogs from thousands of breeders, Little (1953) proposed a ticked locus with two alleles, the dominant T (ticked) allele and the recessive t allele for non-ticked. Little (1957) discussed evidence for this locus.","mondo_terms":[],"name":"","omia_group_id":2264,"omia_phene_id":4333,"omia_record_id":"OMIA:002264-9615","publication_ids":[119928,120639,121048,122792,124017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4333","source_release":"retrieved-2026-09-12","summary":"Brancalion et al. (2021): \"“ticked” and “roan” . . . both describe the presence of flecks of color that vary in distribution and intensity within otherwise “clear” white markings. The appearance of the pigment in the white patterning caused by ticking and roaning intensifies in the weeks after birth.  . . . Colloquially, ticked is regarded as the appearance of pigmented spots in white areas of the body. Pigmented spots from ticking range in size from only a few hairs to coin-sized and are most dense on the muzzle and legs . . .  . In contrast, pigmentation in the white patterning associated with roan is a mixture of pigmented and white hairs throughout the areas of the coat that would otherwise be white (Little 1953), with the phenotype dispersed relatively evenly across the body.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200495"},{"name":"Irish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200704"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":true,"characterised_year":2020,"clinical_features":"Sueki et al. (1997) reported skin lesions on the ventral chest of a single 7 month old English Setter and on the head and knee of two of his crossbred offspring: \"skin lesions were characterized by hairless, hypertrophic plaques ... The surface of the lesion was rough, with occasional serous crusting and peripheral scaling .... Pruritus was minimal. The lesions enlarged slowly, and no additional lesion developed.\" Linek et al. (2020) reported a \"4-month-old female Irish Terrier ... with a well demarcated ulcerative and crusting lesion in the right ear canal. ... The lesion was successfully treated .... Over the course of three years, the dog additionally developed three dermal nodules of up to 4 cm in diameter that were excised and healed without complications.\"","defect":true,"group_name":"Darier disease","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0007417","iri":"http://purl.obolibrary.org/obo/MONDO_0007417","label":"Darier disease"}],"name":"Also described as epidermal acantholysis","omia_group_id":2265,"omia_phene_id":4334,"omia_record_id":"OMIA:002265-9615","publication_ids":[72598,120642,120643,120644,120645,123125,124326],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4334","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2020,"clinical_features":"Backel et al. (2020): \"A single male Rottweiler dog with severe footpad hyperkeratosis starting at an age of eight weeks was investigated. The hyperkeratosis was initially restricted to the footpads. The footpad lesions caused severe discomfort to the dog and had to be trimmed under anesthesia every 8-10 weeks. Histologically, the epidermis showed papillated villous projections of dense keratin in the stratum corneum. Starting at eight months of age, the patient additionally developed signs consistent with atopic dermatitis and recurrent bacterial skin and ear infections. Crusted hyperkeratotic plaques developed at sites of infection.\"","defect":true,"group_name":"Hyperkeratosis, palmoplantar, DSG1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0007859","iri":"http://purl.obolibrary.org/obo/MONDO_0007859","label":"palmoplantar keratoderma i, striate, focal, or diffuse"}],"name":"Hereditary footpad hyperkeratosis (HFH)","omia_group_id":2266,"omia_phene_id":4335,"omia_record_id":"OMIA:002266-9615","publication_ids":[120651,123125],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4335","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"}],"characterised":true,"characterised_year":2020,"clinical_features":"Affected puppies developed widespread ulcers of the skin, footpads, and oral mucosa within the first weeks of life. The average weight was about half that of their unaffected siblings. Due to the severity of the phenotype affected dogs were euthanized between 4 and 7.5 months of age (Kiener et al. 2020). The skin lesions were not seen at birth and developed only during the first weeks of life. This led to the classification of a JEB of intermediate severity (Kiener et al. 2020).","defect":true,"group_name":"Epidermolysis bullosa, junctionalis, LAMB3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2269,"omia_phene_id":4338,"omia_record_id":"OMIA:002269-9615","publication_ids":[120907,120908,123125,123600],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4338","source_release":"retrieved-2026-09-12","summary":"In epidermolysis bullosa (EB), the epidermis easily detaches from the underlying dermis. Currently four subtypes of EB are distinguished: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler EB. At the time of preparing this entry, 16 different EB genes were known in human genetics (Has et al. 2020).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"}],"characterised":true,"characterised_year":2020,"clinical_features":"","defect":true,"group_name":"Familial adenomatous polyposis","inheritance":{"code":"PD","name":"Probably autosomal dominant"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0021056","iri":"http://purl.obolibrary.org/obo/MONDO_0021056","label":"familial adenomatous polyposis 1"}],"name":"","omia_group_id":1916,"omia_phene_id":4347,"omia_record_id":"OMIA:001916-9615","publication_ids":[120720,121155,123398,125606,133360],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4347","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2020,"clinical_features":"","defect":true,"group_name":"Muscular dystrophy, Ullrich type, COL6A3-related","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"Ullrich-like congenital muscular dystrophy; sarcolemmal specific collagen VI deficient myopathy","omia_group_id":2274,"omia_phene_id":4348,"omia_record_id":"OMIA:002274-9615","publication_ids":[116107,120721,125860],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4348","source_release":"retrieved-2026-09-12","summary":"see also 'Muscular dystrophy, Ullrich type, COL6A1-related in Canis lupus familiaris' for similar disease in Landseer dogs","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"}],"characterised":true,"characterised_year":2020,"clinical_features":"HPS3 deficient (cocoa) coloured dogs are born brown. Their colour darkens with age and they become slightly darker than TYRP1-deficient (chocolate) dogs as adults (Kiener et al. 2020). So far, it has not been investigated whether cocoa coloured dogs have any bleeding disorder or visual impairments, similar to what has been observed in human patients with Hermansky-Pudlak syndrome 3.","defect":false,"group_name":"Coat colour, HPS3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2275,"omia_phene_id":4351,"omia_record_id":"OMIA:002275-9615","publication_ids":[120776,121947,122792,124017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4351","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"}],"characterised":true,"characterised_year":2019,"clinical_features":"Van Poucke et al. (2019): \"progressive spinocerebellar ataxia, which is the most important feature of the canine phenotype, hindlimb paresis, and myokymia-like muscle contractions\"","defect":true,"group_name":"Ataxia, spinocerebellar, SLC12A6-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2279,"omia_phene_id":4355,"omia_record_id":"OMIA:002279-9615","publication_ids":[119404,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4355","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Coat colour, albinism, generic","inheritance":null,"inheritance_text":"In the results of their extensive matings in their experimental kennel in which albinism was segregating, Pearson and Usher (1929) did not observe phenotypic ratios consistent with single-locus Mendelian inheritance.","mondo_terms":[],"name":"","omia_group_id":2280,"omia_phene_id":4372,"omia_record_id":"OMIA:002280-9615","publication_ids":[7644,8147],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4372","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Spanish Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201280"}],"characterised":true,"characterised_year":2020,"clinical_features":"Winkler et al. (2020): \"Fundus images from an affected ~4.5-year-old dog (SWD IIE) showed advanced retinal degeneration typical of PRA, including vascular attenuation and tapetal hyperreflectivity\"","defect":true,"group_name":"Retinal atrophy, progressive, PDE6B-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2282,"omia_phene_id":4391,"omia_record_id":"OMIA:002282-9615","publication_ids":[120851,123310,125219,126631,126774,129719,129973,130075,132320],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4391","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Brussels Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200241"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Petit Brabancon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201011"},{"name":"Russian Bolonka (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201147"}],"characterised":true,"characterised_year":2020,"clinical_features":"Iio et al. (2020) :\"A 6-mo-old female Chihuahua was presented with recurrent episodes of hypoglycemia and collapse. Physical examination revealed proportionate dwarfism, retained puppy hair coat, retained deciduous teeth, and open fontanelles. Routine blood tests revealed hypoglycemia, thrombocytosis, hypoproteinemia, and elevated alkaline phosphatase activity. The urinalysis, radiographs, and ultrasonographs were unremarkable. Endocrine testing revealed that insulin-like growth factor 1 was below the detection limit; concentrations of total thyroxine, baseline cortisol, and cortisol stimulated by tetracosactide acetate were within their reference intervals. The pituitary gland showed no organic abnormalities on magnetic resonance imaging. For definitive diagnosis, we conducted the stimulation test for growth hormone (GH) release and diagnosed isolated GH deficiency.\"","defect":true,"group_name":"Dwarfism, growth-hormone deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"isolated growth hormone deficiency","omia_group_id":1473,"omia_phene_id":4393,"omia_record_id":"OMIA:001473-9615","publication_ids":[120856,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4393","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0000270","iri":"http://purl.obolibrary.org/obo/HP_0000270","label":"delay cranial suture closure"},{"id":"HP:0000824","iri":"http://purl.obolibrary.org/obo/HP_0000824","label":"decrease response to growth hormone stimulation test"},{"id":"HP:0006335","iri":"http://purl.obolibrary.org/obo/HP_0006335","label":"persistence of primary teeth"},{"id":"HP:0030353","iri":"http://purl.obolibrary.org/obo/HP_0030353","label":"decrease serum insulin - like growth factor 1"},{"id":"MP:0000189","iri":"http://purl.obolibrary.org/obo/MP_0000189","label":"hypoglycemia"},{"id":"MP:0002073","iri":"http://purl.obolibrary.org/obo/MP_0002073","label":"abnormal hair growth"},{"id":"MP:0005505","iri":"http://purl.obolibrary.org/obo/MP_0005505","label":"thrombocytosis"},{"id":"MP:0005567","iri":"http://purl.obolibrary.org/obo/MP_0005567","label":"decreased circulating total protein level"},{"id":"MP:0008974","iri":"http://purl.obolibrary.org/obo/MP_0008974","label":"proportional dwarf"},{"id":"MP:0011584","iri":"http://purl.obolibrary.org/obo/MP_0011584","label":"increased alkaline phosphatase activity"}]}
{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":true,"characterised_year":2019,"clinical_features":"Granger et al. (2019): \"at a young age (<2 years), affected Miniature Schnauzers presented regurgitations caused by mega-esophagus and inspiratory dyspnea caused by laryngeal paralysis. Electrophysiological studies revealed marked slowing of motor and sensory nerve conduction velocities (∼20 m/s), although some nerves had preserved conduction velocities.\"\r\nFarré Mariné et al. (2020): \"Twelve Miniature Schnauzers presented between March 2013 and June 2019. Only dogs presented with consistent clinical signs and homozygous for the MTRM13/SBF2 genetic variant were included. Clinical signs, age of onset and presentation, time from onset to presentation, treatment, outcome, and time from diagnosis to final follow-up were retrospectively reviewed. The hallmark clinical signs at the time of presentation were regurgitation with radiologically confirmed megaesophagus (11/12) and aphonic bark (11/12) with or without obvious neuromuscular weakness despite electrodiagnostic evidence of appendicular demyelinating polyneuropathy. Age of onset and clinical presentation were 3-18 and 4-96 months, respectively. Treatment was mostly symptomatic and consisted of head elevation during meals, antacids, prokinetics, bethanechol, sildenafil, mirtazapine, or some combination of these. During the follow-up period (7-73 months), clinical signs were unchanged in (11/12) cases with aspiration pneumonia developing occasionally (6/12) and being the cause of death in 1 dog. Demyelinating polyneuropathy of Miniature Schnauzers tends to remain stable over the long term leading to a good prognosis with preventive feeding measures and symptomatic treatment to control aspiration pneumonia.\"","defect":true,"group_name":"Polyneuropathy, SBF2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Granger et al. (2019): \"[Vanhaesebrouck et al. (2008)] described the clinical, electrophysiological and pathological findings of a demyelinating motor and sensory neuropathy in Miniature Schnauzer dogs, with a suspected autosomal recessive mode of inheritance based on pedigree analysis.\"","mondo_terms":[],"name":"","omia_group_id":2284,"omia_phene_id":4395,"omia_record_id":"OMIA:002284-9615","publication_ids":[109111,120866,120867,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4395","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Vestibular disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2263,"omia_phene_id":4398,"omia_record_id":"OMIA:002263-9615","publication_ids":[120895],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4398","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":false,"characterised_year":null,"clinical_features":"Jolly et al. (2002) reported that \"The nature, distribution and histochemistry of lesions observed [in a mixed-breed dog] are consistent with a putative diagnosis of Glycogen storage disease type IV, an inherited metabolic defect associated with a deficiency of glycogen-branching enzyme not previously reported in dogs.\"","defect":true,"group_name":"Glycogen storage disease IV","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009292","iri":"http://purl.obolibrary.org/obo/MONDO_0009292","label":"glycogen storage disease due to glycogen branching enzyme deficiency"}],"name":"","omia_group_id":420,"omia_phene_id":4406,"omia_record_id":"OMIA:000420-9615","publication_ids":[120934,121122],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4406","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Lhasa Apso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200824"}],"characterised":true,"characterised_year":2020,"clinical_features":"Clinical signs are consistent with a rod-cone degeneration in both eyes. Initially, there may be mild attenuation of retinal blood vessels, hyper-reflectivity of the tapetum, optic disc discolouration and night blindness. As the disease progresses, the blindness becomes moderate to severe with attenuation of retinal blood vessel; hyper-reflectivity of the tapetum, due to retinal thinning; and optic disc atrophy (Hitti-Malin et al., 2020). Of the 19 out of 21 dogs for whom an age at diagnosis is known, approximately 50% were diagnosed between the age of 5 and 8 years (Hitti-Malin et al., 2020). [IT thanks DVM student Andrew Barker, who provided the basis of this contribution in April 2022].","defect":true,"group_name":"Retinal atrophy, progressive, IMPG2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Progressive retinal atrophy 4","omia_group_id":2289,"omia_phene_id":4409,"omia_record_id":"OMIA:002289-9615","publication_ids":[112004,120957,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4409","source_release":"retrieved-2026-09-12","summary":"Many different forms of progressive retinal atrophy (PRA) exist and more than 10 different genes have been identified so far in dogs to have likely causal variants for PRA. Please review OMIA for other variants. This OMIA entry will focus on PRA due the variants in the IMPG2 gene.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Intersex: XX, SRY-negative (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2290,"omia_phene_id":4411,"omia_record_id":"OMIA:002290-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4411","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"}],"characterised":false,"characterised_year":null,"clinical_features":"Abrams et al. 92020): \"maxillary canine-tooth mesioversion (MCM) describes an upper canine tooth that is displaced forward toward the nose, also known as a lance canine . . .   . One or both maxillary canines may be affected. MCM can cause traumatic occlusion, ulceration of the upper lip, and/or periodontal disease and may require extraction or orthodontic repositioning\".","defect":true,"group_name":"Maxillary canine-tooth mesioversion","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2291,"omia_phene_id":4412,"omia_record_id":"OMIA:002291-9615","publication_ids":[120963,120964],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4412","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dutch Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200463"},{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"}],"characterised":true,"characterised_year":2019,"clinical_features":"Shelton et al. (2019) reported in Dutch Shepherd dogs with the p.L349P variant: \"Five related Dutch Shepherd dogs with progressive muscle weakness and generalized muscle atrophy beginning at 3 to 9 months of age were euthanized by 2 years of age. Clinical signs included muscle tremors, pelvic limb stiffness, weakness progressing to inability to walk, and severe muscle atrophy. Serum CK activity was moderately elevated (ranging from 800–2,500 IU/L (reference values <200 IU/L) in all affected dogs, indicating myofiber damage. As far as could be determined, affected dogs did not have behavioral abnormalities or seizure activity, interacted with littermates and other dogs, and were visual with no ocular abnormalities noted. As myopathic changes predominated, extensive evaluations by a veterinary neurologist for central nervous system disease or by an ophthalmologist for ocular disease were not performed.\"\r\nChristen et al. (2022) reported in 4 Nova Scotia Duck Tolling Retrievers with the p.P446L variant: \"Age of onset of neurological signs was between 10 weeks and 6 months. Clinical abnormalities were restricted to the neuromuscular system in all four dogs. Neurological examination showed generalized ataxia and hypermetria, which was more pronounced in the pelvic limbs in all four dogs. Intentional head tremor was present in one dog. In two dogs, generalized neuromuscular weakness became apparent after 1 month, characterized by exercise intolerance, episodic collapse, stiff gait, and bunny hopping. Hopping was delayed in four limbs in three dogs, menace responses were absent in one dog, and decreased withdrawal reflexes were found in four limbs of three dogs.\" ... \"Blood examination showed increases in serum creatine kinase concentrations in all four dogs (between 3 and 25 times greater than the upper reference limit). An EMG showed mild spontaneous activity in peripheral limb muscles. MRI of the brain in the same dog showed bilateral symmetrical lesions in the cerebellum and multifocal lesions in the masticatory muscles.\"","defect":true,"group_name":"Cerebellar degeneration-myositis complex, SLC25A12-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Cerebellar degeneration-myositis complex, inflammatory myopathy","omia_group_id":2294,"omia_phene_id":4415,"omia_record_id":"OMIA:002294-9615","publication_ids":[120984,123441,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4415","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2020,"clinical_features":"","defect":true,"group_name":"XY sex reversal, NR5A1-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013066","iri":"http://purl.obolibrary.org/obo/MONDO_0013066","label":"46,XY sex reversal 3"}],"name":"XY difference of sexual development, NR5A1-related; XY disorder of sexual development, NR5A1-related","omia_group_id":2296,"omia_phene_id":4419,"omia_record_id":"OMIA:002296-9615","publication_ids":[120997],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4419","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2013,"clinical_features":"","defect":true,"group_name":"Leukaemia, chronic myelomonocytic","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"Chronic myelomonocytic leukemia","omia_group_id":2299,"omia_phene_id":4429,"omia_record_id":"OMIA:002299-9615","publication_ids":[121059,121060,124551],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4429","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Pyrenean Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201117"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"}],"characterised":true,"characterised_year":2020,"clinical_features":"Letko et al. (2020): \"key feature across breeds being breathing difficulty, often described as noisy or raspy breathing ... . Additional clinical signs, which were noted variably among the dogs, included difficulty swallowing, changes in barking frequency and quality, high-stepping and uncoordinated gait, stumbling and tripping, exercise intolerance, and limb muscle atrophy.\"","defect":true,"group_name":"Laryngeal paralysis and polyneuropathy, CNTNAP1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2301,"omia_phene_id":4432,"omia_record_id":"OMIA:002301-9615","publication_ids":[109480,121067,125653,128324,130294,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4432","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200408"}],"characterised":true,"characterised_year":2021,"clinical_features":"Clinical signs first becomes apparent in affected Miniature Dachshunds when they are young, at approximately 6 months of age, and is slowly progressive (Mickelson et al, 2021). Dogs with this disease will show signs such as exercise intolerance, a stiff gait, difficulty swallowing and pneumonia (Mickelson et al., 2021). Blood tests will show consistent high levels of the muscle enzyme, creatinine kinase (CK) in the blood and urine tests will show myoglobinuria, an excess of myoglobin indicating muscle breakdown (Mickelson et al, 2021). A marked and persistent elevation in CK, even if the dog is not showing clinical signs, may be an indicator of disease in young Miniature Dachshunds (Mickelson et al, 2021). \r\n\r\nIT thanks DVM student Dilshara Hill, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Muscular dystrophy, limb-girdle, type R3 (LGMDR3)","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011968","iri":"http://purl.obolibrary.org/obo/MONDO_0011968","label":"autosomal recessive limb-girdle muscular dystrophy type 2D"}],"name":"LGMD2D; alpha-sarcoglycanopathy","omia_group_id":2305,"omia_phene_id":4444,"omia_record_id":"OMIA:002305-9615","publication_ids":[121143],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4444","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Wirehaired Pointing Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201427"}],"characterised":true,"characterised_year":2021,"clinical_features":"","defect":false,"group_name":"Coat colour, roan","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1216,"omia_phene_id":4461,"omia_record_id":"OMIA:001216-9615","publication_ids":[119928,121048,121252,121264,122792,124017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4461","source_release":"retrieved-2026-09-12","summary":"see also: OMIA 002264-9615 : Coat colour, ticked in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Czechoslovakian Wolfdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200402"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Saarloos Wolfhond (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201158"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"},{"name":"White Swiss Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201423"}],"characterised":true,"characterised_year":2011,"clinical_features":"Dogs with homozygous LXH3 defects experience deficiency in pituitary hormone production, including GH, TSH and reproductive hormones (Voorbji et al., 2011). As a result of the primary insufficiency in GH, IGF levels are low in affected dogs compared to healthy dogs, leading to marked growth retardation with proportional dwarfism (Eigenmann et al., 1984; Voorbij and Kooistra, 2009). The affected puppies have normal growth during the first weeks, but the growth rate markedly slows down (Voorbij, Leegwater and Kooistra, 2014; Voorbij and Kooistra, 2009). Other characteristic clinical features include bilateral symmetrical alopecia mostly at the trunk, neck and proximal extremities, retention of secondary hair coat and lack of guard hairs (Voorbij and Kooistra, 2009). Concurrent problems such as hyperpigmentation, pyoderma, and scales may also occur (Voorbij and Kooistra, 2009). Some dogs develop neurological signs due to anatomical abnormalities in the atlanto-axial joint (Voorbij et al., 2015). IT thanks DVM student Riley Lin, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Pituitary hormone deficiency, LHX3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Dwarfism, pituitary, LHX3-related; pituitary dwarfism","omia_group_id":2314,"omia_phene_id":4464,"omia_record_id":"OMIA:002314-9615","publication_ids":[110442,111881,111882,112875,112884,116379,120665,121756,124865,124866,128250,130528],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4464","source_release":"retrieved-2026-09-12","summary":"see also <a href=\"../../../../../../OMIA000307/9615/\">OMIA:000307-9615 </a>Dwarfism, pituitary, generic and <a href=\"../../../../../../OMIA002315/9615/\">OMIA:002315-9615</a> : Dwarfism, pituitary, POU1F1-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Karelian Bear Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200754"}],"characterised":true,"characterised_year":2021,"clinical_features":"Karelian bear dogs with the homozygous POU1F1 defect present with proportional dwarfism, being approximately 18cm smaller in height than unaffected KBDs (Andresen &amp; Willeberg, 1976). Affected dogs either retain their puppy coat or appear to have a regular adult coat until around 2-3 years of age when their hair coat is almost completely lost (Andresen &amp; Willeberg, 1976). Clinical presentations can be more severe with early onset neurological signs including seizures and blindness in puppies (Kyostila et al., 2021). IT thanks DVM student Gemma Campbell, who provided the basis of this contribution in May 2023","defect":true,"group_name":"Pituitary hormone deficiency, POU1F1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0024464","iri":"http://purl.obolibrary.org/obo/MONDO_0024464","label":"pituitary hormone deficiency, combined, 1"}],"name":"combined pituitary hormone deficiency dwarfism; hypopituitarism dwarfism; pituitary dwarfism","omia_group_id":2315,"omia_phene_id":4465,"omia_record_id":"OMIA:002315-9615","publication_ids":[110443,121208],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4465","source_release":"retrieved-2026-09-12","summary":"see also <a href=\"../../../../../../OMIA000307/9615/\">OMIA:000307-9615 : </a>Dwarfism, pituitary, generic and <a href=\"../../../../../../OMIA002314/9615/\">OMIA:002314-9615</a> : Dwarfism, pituitary, LHX3-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Finnish Lapphund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200523"},{"name":"Lapponian Herder (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200814"}],"characterised":true,"characterised_year":2021,"clinical_features":"Kaukonen et al. (2021): \"examinations had revealed clinical findings compatible with generalized PRA in 10 LHs (five males, five females), as these dogs presented with bilateral, diffuse tapetal hyperreflectivity and vessel attenuation. Two of the 10 cases were only examined as young or middle-aged adults (at 1.9 and 5.1 years of age) when they exhibited only mild fundus changes and were therefore diagnosed to have “PRA suspected”. The remaining eight dogs were also examined later in life and had been diagnosed as “PRA affected” at an average age of 9.0 years (± SD 2.9). Typical early findings included night blindness and diffuse tapetal hyperreflectivity. Disease progression was slow as some of the affected dogs still had some visual capacity left at 13 years. All the cases were genotyped for the PRCD p.C2Y and the cmr3 (p.P463fs, p.G489V) variants ... . Of the 10 cases, all were wild-type for the PRCD variant, while four were wild-type and six heterozygous for the two cmr3 variants ... . Spectral-domain optical coherence tomography (SD-OCT) was performed ... . The thicknesses of the whole retina with the retinal pigment epithelium (RPE) and outer retinal layers, including outer nuclear layer, inner segments and outer segments of photoreceptors, and RPE, were severely reduced in the affected dog ... . Interestingly, the photoreceptor layer was not completely lost despite the dog’s old age ... . Apart from the ocular signs, all three dogs were clinically healthy.\"","defect":true,"group_name":"Retinal atrophy, progressive, IFT122-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Kaukonen et al. (2021): \"Pedigree analysis suggested autosomal recessive PRA in LH [Lapponian Herders], as affected dogs were born to unaffected individuals, there were multiple cases in one of the affected litters, and both sexes were equally affected.\"","mondo_terms":[],"name":"","omia_group_id":2320,"omia_phene_id":4473,"omia_record_id":"OMIA:002320-9615","publication_ids":[121265,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4473","source_release":"retrieved-2026-09-12","summary":"Kaukonen et al. (2021): \"Retinitis pigmentosa (RP) is a blinding eye disease affecting nearly two million people worldwide. Dogs are affected with a similar illness termed progressive retinal atrophy (PRA). Lapponian herders (LHs) are affected with several types of inherited retinal dystrophies, and variants in PRCD and BEST1 genes have been associated with generalized PRA and canine multifocal retinopathy 3 (cmr3), respectively. However, all retinal dystrophy cases in LHs are not explained by these variants ... . We report here a recessive missense variant in IFT122 as a candidate causal variant for a novel canine RP model ... .\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Leukodystrophy, hypomyelinating","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Shaking puppy syndrome","omia_group_id":2321,"omia_phene_id":4474,"omia_record_id":"OMIA:002321-9615","publication_ids":[121267,127213],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4474","source_release":"retrieved-2026-09-12","summary":"Quitt et al. (2021) \"described a novel hypomyelinating leukodystrophy in 11 related German Shepherd dogs. The clinical course was nonprogressive and adult dogs walked with residual pelvic limb ataxia. Repeated conventional brain MRI was useful to characterize abnormal maturation of subcortical and cerebellar white matter. The disease is thought to be genetic in origin with an autosomal recessive mode of inheritance.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dutch Tulip Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200469"}],"characterised":true,"characterised_year":2021,"clinical_features":"Mandigers et al. (2021): \"Affected pups exhibited clinical signs of a severe tetraparesis, dystonia, cramping and falling over when trying to walk. In most cases, the presentation deteriorated within weeks and elective euthanasia was performed. ... In all pups, routine hematology and clinical chemistry and urinalysis did not reveal any significant abnormalities. In two pups the complete vertebral column was radiographically examined, in four pups an EMG (electromyogram) performed and these did not reveal any abnormalities. On four pups a so-called tensilon test was performed that ruled out myasthenia gravis. In two pups the acetylcholinesterase receptor titer for myasthenia gravis was measured and was found not to be abnormal. In seven pups titers for toxoplasmosis and neospora revealed no increase. In three pups an additional organic acid analysis was performed, which did not reveal any abnormality.\"","defect":true,"group_name":"Dyskinesia, paroxysmal, SOD1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Mandigers et al. (2021): \"Pedigree analysis indicated autosomal recessive inheritance.\"","mondo_terms":[],"name":"","omia_group_id":2322,"omia_phene_id":4475,"omia_record_id":"OMIA:002322-9615","publication_ids":[121270,122714,122898,123965,128068,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4475","source_release":"retrieved-2026-09-12","summary":"A different mutation in the SOD1 gene causes adult onset disease: OMIA 000263-9615 : Degenerative myelopathy in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neurofibromatosis, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":716,"omia_phene_id":4481,"omia_record_id":"OMIA:000716-9615","publication_ids":[121369,121371],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4481","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"}],"characterised":true,"characterised_year":2021,"clinical_features":"Hytönen et al. (2021): \"The affected dogs develop normally until 6–12 weeks of life before the onset of rapidly worsening seizures, status epilepticus, and death.\"","defect":true,"group_name":"Epilepsy, mitochondrial dysfunction and neurodegeneration, PITRM1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Hytönen et al. (2021): \"Relatedness information of the affected dogs suggested an autosomal recessive mode of inheritance for the disease as all affected dogs were closely related, including affected littermates, both sexes were affected, and parents were unaffected.\"","mondo_terms":[],"name":"","omia_group_id":2324,"omia_phene_id":4483,"omia_record_id":"OMIA:002324-9615","publication_ids":[121391,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4483","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Stumpy Tail Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200097"}],"characterised":true,"characterised_year":2021,"clinical_features":"","defect":true,"group_name":"Deafness, KLF7-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Congenital Deafness; hearing loss; canine deafness; congenital sensorineural deafness","omia_group_id":2326,"omia_phene_id":4485,"omia_record_id":"OMIA:002326-9615","publication_ids":[109278,121398,128324],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4485","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Shiba Inu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201220"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Hyperinsulinemic hypoglycemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"congenital hyperinsulinism","omia_group_id":2327,"omia_phene_id":4488,"omia_record_id":"OMIA:002327-9615","publication_ids":[121413],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4488","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"French Pointing Dog - Pyrenean Type (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200546"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Behaviour","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2328,"omia_phene_id":4489,"omia_record_id":"OMIA:002328-9615","publication_ids":[121414,121725,121726,122109,124352,124858,124899,124938,124973,125576,125654,126321,126501,126741,126765,127756,127852,127917,127973,127984,127989,128491,128572,128719,129027,129266,129285,129790,129810,130323,130369,130516,130549,130795,130832,130850,131079,131080,131087,132399,132480,132481,132511,132532,133170,133301,133464],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4489","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Prostate cancer","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2335,"omia_phene_id":4504,"omia_record_id":"OMIA:002335-9615","publication_ids":[121440,121441,121442,121443,121444,121445,121446,122589,124551,124935,125830,126433,127380,127413,128361,128494,129842,130385,130657,130856,131130],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4504","source_release":"retrieved-2026-09-12","summary":"Teske et al. (2002): \"Prostate cancer is one of the most important malignancies in men in the Western world. ... The dog is one of the few other species in which spontaneous prostate cancer occurs.\" Teske et al. (2002) \"investigated the frequency of prostate cancer among prostatic abnormalities in dogs and evaluated whether castration influences the incidence of prostate cancer in dogs. Other factors such as age at castration, age at diagnosis, and breed were included in an attempt to improve insight into the pathogenesis of prostate cancer in the dog .... We observed an increased risk of benign prostatic disease in the Scottish terrier, the Bouvier des Flandres, the Bernese mountain dog and the German Pointer. To our knowledge, a breed specificity for BPH, in Doberman Pinschers, has only been reported once before [Krawiec and Heflin, 1992].\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2021,"clinical_features":"Hytönen et al. (2021): \"Sensorineural bilateral deafness was diagnosed in four Rottweiler siblings (one female and three males) in a litter of ten puppies using brainstem auditory evoked response (BAER) testing. BAER testing was performed either at 4 (n = 2), 5, or 19 months of age, and no auditory response was detected in any of them. However, owners’ observations suggested that the puppies had already been affected by hearing impairment at a few weeks of age. No other clinical signs were observed.\"","defect":true,"group_name":"Deafness, LOXHD1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Hytönen et al. (2021): \"To validate the LOXHD1 variant, we genotyped it in a cohort of 585 Rottweilers, including the four affected siblings and 581 unaffected dogs. We observed complete segregation of the variant with hearing loss, as all four affected dogs were homozygous for the variant. The unaffected dogs were either heterozygous (n = 33) or wild-type (n = 548). The six unaffected littermates of the probands were either wild-type or heterozygous for the variant.\"","mondo_terms":[],"name":"Nonsyndromic hearing loss","omia_group_id":2336,"omia_phene_id":4508,"omia_record_id":"OMIA:002336-9615","publication_ids":[65182,121557,121558,125653,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4508","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"}],"characterised":true,"characterised_year":2021,"clinical_features":"Joyce et al. (2021): \"In the original litter examined (seven puppies), two males were found to have behavioural signs suggestive of severe visual deficits (determined by observing their movements in unfamiliar surroundings), absent pupillary light reflexes, wandering nystagmus, darkened irises, and extensive posterior segment haemorrhage. Ocular ultrasonography revealed total retinal detachment and increased echogenicity within posterior segment in all eyes. The globe diameters (anterior to posterior) were comparable with their normal litter mates at 16mm in all dogs except one affected dog, whose globes were 15mm OU. ... One male was found to be bilaterally cryptorchid on clinical examination. ... In the second litter examined (four puppies), one male displayed behavioural signs suggestive of severe visual deficits (determined by observing his movements in unfamiliar surroundings), and was found to have absent dazzle and pupillary light reflexes, a wandering nystagmus, corneal endothelial opacities ventrally in the right eye, darkened irises, hyphema of the right eye and extensive posterior segment haemorrhage in both eyes, with the retina in the left eye appearing detached and as a fibrovascular retrolental mass ..... Ocular ultrasonography revealed total retinal detachment and increased echogenicity within the posterior segment in both eyes. The left globe appeared microphthalmic with an anterior-posterior diameter of 16.42mm versus 21.88mm in the right eye. The affected male was subsequently re-examined, the left eye appeared relatively unchanged whereas the corneal pathology had advanced to diffuse corneal degeneration with neovascularisation and dense crystalline stromal deposits in the right eye .... Microphakia was evident along with incipient nuclear cataract being present ... . On clinical examination the dog was found to be cryptorchid at 10 months old.\"","defect":true,"group_name":"Retinal dysplasia, NDP-related","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"Pedigree analysis in a small family was consistent with an X-linked recessive mode of inheritance (Joyce et al., 2021).","mondo_terms":[],"name":"","omia_group_id":2348,"omia_phene_id":4520,"omia_record_id":"OMIA:002348-9615","publication_ids":[121599,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4520","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Coat colour, phaeomelanin dilution, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2350,"omia_phene_id":4526,"omia_record_id":"OMIA:002350-9615","publication_ids":[121693],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4526","source_release":"retrieved-2026-09-12","summary":"Slavney et al. (2021): \"In order to gain further insight into the extent of multigenicity and epistatic interactions underlying coat pheomelanin intensity in dogs, we leveraged a large dataset obtained via a direct-to-consumer canine genetic testing service. This consisted of genome-wide single nucleotide polymorphism (SNP) genotype data and owner-provided photos for 3,057 pheomelanic mixed breed and purebred dogs from 63 breeds and varieties spanning the full range of canine coat pheomelanin intensity. We first performed a genome-wide association study (GWAS) on 2,149 of these dogs to search for additional genetic variants that underlie intensity variation. GWAS identified five loci significantly associated with intensity, of which two (CFA15 29.8 Mb and CFA20 55.8 Mb) replicate previous findings [OMIA 002197-9615, OMIA 002228-9615] and three (CFA2 74.7 Mb, CFA18 12.9 Mb, CFA21 10.9 Mb) have not previously been reported. In order to assess the combined predictive power of these loci across dog breeds, we used our GWAS data set to fit a linear model, which explained over 70% of variation in coat pheomelanin intensity in an independent validation dataset of 908 dogs.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Prostatic hyperplasia, benign","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2355,"omia_phene_id":4542,"omia_record_id":"OMIA:002355-9615","publication_ids":[121615,121754,121755,126511,127448,129987,130131,130370,130372,130421],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4542","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Entlebucher Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200503"}],"characterised":true,"characterised_year":2019,"clinical_features":"","defect":false,"group_name":"Fecundity, GDF9-related","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Torrecilha et al. (2020): \"The trait [average litter size] heritability was estimated at 43.1%, from which approximately 15% was accountable by the GDF9 locus alone. Therefore, markers flanking GDF9 explained approximately 6.5% of the variance in ALS.\"","mondo_terms":[],"name":"","omia_group_id":2362,"omia_phene_id":4554,"omia_record_id":"OMIA:002362-9615","publication_ids":[120412,125653],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4554","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"},{"name":"Schnauzer, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201189"}],"characterised":true,"characterised_year":2014,"clinical_features":"Harmon et al. (2017): \"describe the clinical features of DCM in standard schnauzers. Medical records for 15 standard schnauzers diagnosed with DCM were reviewed. The median age at diagnosis of DCM was 1.6 yr, with all dogs developing left-sided congestive heart failure (CHF). The median age of onset of CHF was 1.6 yr, and was significantly shorter in males (1.5 yr) than for females (2.35 yr). The median survival time after diagnosis of CHF was 22 days, and was shorter in males (13 days) than females (62 days).\" Median lifespan is shorter (3.06 years) in standard schnauzers homozygous for the mutation compared to those heterozygous (15.11 years) or wild-type (15.18 years) (Leach et al., 2022) [IT thanks DVM student Caitlin Henning for contribution to this entry in April 2022].","defect":true,"group_name":"Cardiomyopathy, dilated, RBM20-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Harmon et al. (2017): \"The occurrence of early onset DCM [dilated cardiomyopathy] in multiple closely related standard schnauzers suggests a familial predisposition in this breed. Pedigree analysis confirmed common ancestry for all DCM affected dogs with a most likely autosomal recessive mode of inheritance.\"","mondo_terms":[],"name":"","omia_group_id":2365,"omia_phene_id":4561,"omia_record_id":"OMIA:002365-9615","publication_ids":[117367,121830,121831,122775,123248,123426,125623],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4561","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"}],"characterised":true,"characterised_year":2021,"clinical_features":"The severity of the clinical phenotype is variable. The four affected dogs of the index family developed uncoordinated movements and intention tremor at two weeks of age. Due to the severity of their clinical signs, they were euthanized at 27 days of age. Another affected dog developed ataxia as a puppy, but remained in a relatively stable condition (with pronounced ataxia) and reached an age of 10 years (Christen et al. 2021).","defect":true,"group_name":"Ataxia, cerebellar, SELENOP-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"CNS atrophy with cerebellar ataxia","omia_group_id":2367,"omia_phene_id":4563,"omia_record_id":"OMIA:002367-9615","publication_ids":[121904,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4563","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by genetic variants in the SELENOP gene. Considerable genetic heterogeneity exists and variants in more than 30 other genes can lead to clinically similar phenotypes (Cocostîrc et al. 2023; Stee et al. 2023). Thus locus heterogeneity for this phenotype must be considered. In Belgian Shepherds, variants in KCNJ10 and ATP1B2 lead to clinically similar ataxia forms termed SDCA1 and SDCA2.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2022,"clinical_features":"Kiener et al. (2022) \"affected dogs had large white to grey and powdery to adherent scale throughout the hair coat. The abdominal skin was mildly hyperpigmented. Thick white scale was adherent to the concave surface of the pinnae.\" According to anecdotal reports from breeders, the scaling in ICH2-affected Golden Retrievers may be more severe and adherent than in Golden Retrievers with the PNPLA1-related from of ichthyosis (Kiener et al. 2022).","defect":true,"group_name":"Ichthyosis, ABHD5-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Golden Retriever ichthyosis type 2","omia_group_id":2368,"omia_phene_id":4564,"omia_record_id":"OMIA:002368-9615","publication_ids":[122821,123125,132569],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4564","source_release":"retrieved-2026-09-12","summary":"Kiener et al. (2022) \"investigated 14 Golden Retrievers with scales that were not homozygous for the mutant PNPLA1 allele suggesting a genetically distinct new form of ichthyosis.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Longhaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200570"}],"characterised":false,"characterised_year":null,"clinical_features":"Yu et al. (2021): \"The age of diagnosis ranged between 4.5 and 13.5 years, and 76% of cases were diagnosed before 10 years of age, implying an early onset of disease.\"","defect":true,"group_name":"Thyroid follicular cell carcinoma, predisposition to","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"Yu et al (2021): \"45 of 54 histopathologically confirmed cases are closely related to a pair of first-half cousins in the past, indicating a familial disease. In addition, genetics contributed more to the thyroid follicular cell carcinoma than other factors by an estimated heritability of 0.62 based on pedigree. ... We observed a significant higher pedigree-based inbreeding coefficient in the affected dogs (mean F 0.23) compared to unaffected dogs (mean F 0.14), suggesting the contribution of inbreeding to tumour development.\"","mondo_terms":[],"name":"","omia_group_id":2380,"omia_phene_id":4590,"omia_record_id":"OMIA:002380-9615","publication_ids":[121916,122283,123693,132025],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4590","source_release":"retrieved-2026-09-12","summary":"Yu et al. (2021) described familial thyroid follicular cell carcinomas in Dutch German longhaired pointers (GLPs).\r\nYu et al. (2021) \"investigated the genetic causes of the disease using a combined approach of genome-wide association study and runs of homozygosity (ROH) analysis based on 170k SNP array genotype data and whole-genome sequences.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund, Miniature Wire-Haired (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200411"}],"characterised":true,"characterised_year":2021,"clinical_features":"Mischke et al. (2021): “Three seven-week-old miniature wire-haired Dachshunds were presented … with excessive bleedings after fitting with a chip two days before. Two puppies were female and one male. One female died a few days later due to severe bleedings. The second female puppy survived up to an age of one year. Owners reported recurrent episodes with severe bleedings in the skin and gums. The third affected male puppy is under intensive veterinary care and still alive at the age of seven years despite intermittent severe bleeding episodes. … Case 4 … died from a hemoabdomen after a traumatic splenic rupture.\"","defect":true,"group_name":"Afibrinogenaemia, FGA-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008737","iri":"http://purl.obolibrary.org/obo/MONDO_0008737","label":"congenital afibrinogenemia"}],"name":"","omia_group_id":2382,"omia_phene_id":4592,"omia_record_id":"OMIA:002382-9615","publication_ids":[121931],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4592","source_release":"retrieved-2026-09-12","summary":"Mischke et al. (2021): “we present a family of miniature wire-haired Dachshunds segregating for congenital afibrinogenemia. We employed homozygosity mapping, a genome-wide association study (GWAS), and sequencing of fibrinogen genes in order to identify a mutation responsible for afibrinogenemia.”","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypercalciuria, idiopathic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Calcium oxalate urolithiasis","omia_group_id":2384,"omia_phene_id":4594,"omia_record_id":"OMIA:002384-9615","publication_ids":[121955,121956,121957,123979],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4594","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pyometra, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2391,"omia_phene_id":4608,"omia_record_id":"OMIA:002391-9615","publication_ids":[122009,122010,122011,122012,124736,125148,126307,129137,130492],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4608","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Liver fibrosis, congential, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2392,"omia_phene_id":4609,"omia_record_id":"OMIA:002392-9615","publication_ids":[122013,122014,122015],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4609","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Keratoconjunctivitis sicca","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"Keratoconjunctivitis sicca (KCS) is an abnormality of the tear film attributed to deficiency of the aqueous portion of the tears. Progressive KCS may result in ocular surface irritation and/or vision impairment via corneal opacification. Also called dry eye.","omia_group_id":2393,"omia_phene_id":4613,"omia_record_id":"OMIA:002393-9615","publication_ids":[122038,122039,122040,125219,126600,128784,129746,130192,132208],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4613","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists: Keratoconjunctivitis sicca (KCS) is \"an abnormality of the tear film attributed to deficiency of the aqueous portion of the tears. Progressive KCS may result in ocular surface irritation and/or vision impairment via corneal opacification. Also called dry eye.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Choroid plexus tumour","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2403,"omia_phene_id":4631,"omia_record_id":"OMIA:002403-9615","publication_ids":[122137],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4631","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Brussels Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200241"},{"name":"Italian Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200713"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Vitreous degeneration","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2409,"omia_phene_id":4642,"omia_record_id":"OMIA:002409-9615","publication_ids":[121884,124236,125219],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4642","source_release":"retrieved-2026-09-12","summary":"Krishnan et al. (2019) reported \"a retrospective study of 4217 dogs from the Companion Animal Eye Registry (CAER) that underwent breed screening ophthalmic examinations between 2013 and 2016. The breeds analyzed included the Italian Greyhound, Shih Tzu, Affenpinscher, Bichon Frise, Brussels Griffon, Whippets, and Greyhound. Data collected from CAER included age, gender, number of examinations, and whether vitreous degeneration, along with cataracts, lens luxation, glaucoma and/or retinal detachment were present in either or both eyes. ... The study found that breed and age are significant drivers for developing VD. Italian Greyhounds, Brussels Griffons, and Shih Tzus have a significantly higher likelihood of VD compared to the negative control breed, the Greyhound. ... However, no association was identified between vitreous degeneration and cataracts, lens luxation, glaucoma, or retinal detachment.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Agenesis, renal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2007,"omia_phene_id":4676,"omia_record_id":"OMIA:002007-9615","publication_ids":[1276,122343,132744],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4676","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"}],"characterised":true,"characterised_year":2022,"clinical_features":"Affolter et al. 2022: \"A 3-months old male Chinese shar-pei was presented for scaly skin and reduced overall body growth when compared with his 3 littermates ... At the time of presentation severe generalized scaling and alopecia was noted, with scaling most prominent on the head, neck, abdomen, legs, axillary folds and paws. Prominent follicular fronds accompanied surface scaling. The paw pads appeared deformed and hyperkeratotic. Pruritus was not observed. The left eye had an entropium. Skin scrapings for Demodex mites were negative. Skin cytology revealed numerous yeast organisms.\"","defect":true,"group_name":"Ichthyosis, KRT1-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Non-epidermolytic ichthyosis","omia_group_id":2425,"omia_phene_id":4678,"omia_record_id":"OMIA:002425-9615","publication_ids":[123125,123732],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4678","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200408"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"}],"characterised":true,"characterised_year":2021,"clinical_features":"Christen et al. (2021): A 1-month-old, female, smooth-haired miniature Dachshund with dilute color and neurological defects was investigated. ... The puppy had visible coat color dilution and was unable to hold its head on its own or to remain in a stable prone position for an extended period.\"","defect":true,"group_name":"Dilute coat color with neurological defects","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Dilute coat color with neurological defects","omia_group_id":1501,"omia_phene_id":4679,"omia_record_id":"OMIA:001501-9615","publication_ids":[47216,122695,123125,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4679","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Norfolk Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200945"}],"characterised":true,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thrombocytopenia, TUBB1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"From segregation analysis of 16 families of Cavalier King Charles Spaniels [CKCS] in which this disorder was segregating, Pedersen et al. (2002) concluded that \" idiopathic, asymptomatic thrombocytopenia in CKCS is inherited in an autosomal recessive manner. The condition most likely constitutes an inherited macrothrombocytopenia in dogs\".","mondo_terms":[],"name":"","omia_group_id":2434,"omia_phene_id":4721,"omia_record_id":"OMIA:002434-9615","publication_ids":[47924,76703,100018,107606,109383,109577,112246,116196,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4721","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"}],"characterised":true,"characterised_year":2012,"clinical_features":"As summarised by Neff et al. (2012): \"Affected pups soon exhibit abducted hind limbs, enlarged joints, dorsoventral flattening of the rib cage, shortened and bent long bones, undershot jaws, and elongated and misshapen paws that resemble clubfoot . . . . Radiographic stippling is found at the epiphyses, reflecting aberrant conversion of cartilage to bone. The vertebrae are often beaked at their ventral surface, a clinical hallmark of several human skeletal dysplasias. The stiffness of joints that is profound in young affected dogs lessens with maturation, but mobility remains restricted and arthritis is a common sequelae.\"","defect":true,"group_name":"Chondrodysplasia, SLC13A1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Osteochondrodysplasia; pseudoachondroplastic dysplasia","omia_group_id":1400,"omia_phene_id":4732,"omia_record_id":"OMIA:001400-9615","publication_ids":[1275,113468,113470,113471,113473,122510],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4732","source_release":"retrieved-2026-09-12","summary":"Information relating to this phene was initially listed under OMIA 001315-9615 : Osteochondrodysplasia in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"Manchester Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200862"}],"characterised":true,"characterised_year":2021,"clinical_features":"In affected dogs with MOCOS deficiency excess xanthine builds up in the urine, a product which has a low solubility and readily precipitates out of urine, creating xanthine calculi (Furrow et al., 2016). These calculi act similar to most uroliths, creating partial or complete urethral obstruction, resulting in intermittent or consistent stranguria and dysuria, and may result in secondary renal damage (Furrow et al., 2016). In the dogs investigated by Tate et al. (2021) \"age at first diagnosis ranged from 7 weeks to 4 years.\"\r\nIT thanks DVM student Cameron Stuart, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Xanthinuria, type II","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Tate et al. (2021) conducted pedigree analysis in Manchester Terriers and their findings were consistent with autosomal recessive inheritance.","mondo_terms":[{"id":"MONDO:0011346","iri":"http://purl.obolibrary.org/obo/MONDO_0011346","label":"xanthinuria type II"}],"name":"Xanthine urolithiasis; xanthine nephrolithiasis","omia_group_id":1819,"omia_phene_id":4735,"omia_record_id":"OMIA:001819-9615","publication_ids":[75793,77270,78803,83995,114682,120987,120988,122517,122518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4735","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2021,"clinical_features":"","defect":true,"group_name":"Xanthinuria, type I","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2445,"omia_phene_id":4736,"omia_record_id":"OMIA:002445-9615","publication_ids":[114682,119911,120987,122517],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4736","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Alanine aminotransferase, reduced activty","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"reduced ALT levels","omia_group_id":2446,"omia_phene_id":4737,"omia_record_id":"OMIA:002446-9615","publication_ids":[122522,122523,125587],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4737","source_release":"retrieved-2026-09-12","summary":"White et al. (2015): \"From a cohort of dogs that had been previously genotyped on a semi-custom Illumina CanineHD array for various genome-wide association studies (GWAS) ..., we chose 353 clinically healthy, adult dogs for our analysis of clinical pathologic test results (14 hematological tests and 25 clinical chemistry tests). After correcting for age, body weight and sex, genetic associations were identified for amylase, segmented neutrophils, urea nitrogen, glucose, and mean corpuscular hemoglobin. Additionally, a strong genetic association (P = 8.1×10-13) was evident between a region of canine chromosome 13 (CFA13) and alanine aminotransferase (ALT), explaining 23% of the variation in ALT levels. This region of CFA13 encompasses the GPT gene that encodes the transferase. Dogs homozygous for the derived allele exhibit lower ALT activity, making increased ALT activity a less useful marker of hepatic injury in these individuals.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bouvier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200206"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Leg weakness","inheritance":null,"inheritance_text":"Tomihari et al. (2022): \"The heritability of the swimmer-puppy onset trait was 0.80\" in Labrador retrievers.","mondo_terms":[],"name":"Swimmer syndrome, swimming pup syndrome, swimming puppy syndrome","omia_group_id":585,"omia_phene_id":4745,"omia_record_id":"OMIA:000585-9615","publication_ids":[48909,122591,122592,122593,122594,122595,123166,125796,127232,133329],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4745","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"}],"characterised":false,"characterised_year":null,"clinical_features":"Olivry et al. (1997) \"Acral, auricular and oral erosions and ulcers were observed. Severe ulceration of the footpads was present.\"","defect":true,"group_name":"Epidermolysis bullosa, junctionalis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":342,"omia_phene_id":4758,"omia_record_id":"OMIA:000342-9615","publication_ids":[77012,124289],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4758","source_release":"retrieved-2026-09-12","summary":"Olivry et al. (1997) \"describe the existence of a previously unreported form of familial localized non-lethal JEB in German Shorthaired Pointer littermates.  ... The defective expression of collagen XVII is likely to be caused by mutation(s) of the COL17A1 gene, as previously reported in humans.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Italian Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200713"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"}],"characterised":true,"characterised_year":2021,"clinical_features":"\"The affected [Italian Greyhound] dog presented with an abnormal short-strided gait, generalized muscle atrophy, and poor growth since 2-months of age. Serum biochemistry revealed a marked elevation in creatine kinase activity. Electrodiagnostic testing supported a myopathy. ... Physical examination revealed a poor body condition score (1/9) with generalized skeletal muscle atrophy. The dog would stand with mild kyphosis and valgus deformities. When ambulating the dog would maintain this posture, show a stiff pelvic limb gait with limited flexion of both stifles and hocks, and would externally rotate both tarsi during the early swing phase while externally rotating the stifles during the postural stance phase. The patellar reflexes were decreased bilaterally and the withdrawal reflexes were mildly decreased in the thoracic limbs. ... At 8 months of age, the gait worsened with intermittent, bilateral pelvic limb lameness. A repeat orthopedic examination revealed grade 3 and grade 2 patellar luxation on the left and right pelvic limb, respectively. Body condition score remained poor at 2/9. The dog was still alive at the time of manuscript submission, at one year and six months of age. At that stage, he was occasionally stumbling in the thoracic limbs and was coping with two walks a day of approximately 1800 meters each. Occasionally, he was taken for approximately 4000 m walks on top of his regular walks, after which he seemed tired.\" (Christen et al. 2021). Shelton et al. (2022): \"The [FS Staffordshire terrier] dog of this report presented for clinical evaluation at 2 years of age; however, clinical signs of weakness, stiff gait, and reduced jaw mobility had been present since the dog was adopted from a shelter at a few months of age. The history, neurological examination, increases in CK, electromyography abnormalities, and pathological changes on muscle biopsy were consistent with a chronic and progressive dystrophic myopathy. ... . Neither cranial nerve abnormalities nor behavioral changes were identified ...\"","defect":true,"group_name":"Congenital muscular dystrophy, LAMA2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2459,"omia_phene_id":4759,"omia_record_id":"OMIA:002459-9615","publication_ids":[122842,122877],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4759","source_release":"retrieved-2026-09-12","summary":"Muscular dystrophy due to causal variants in <em>LAMA2 </em>is one of several inherited forms of muscular dystrophy in dogs.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2021,"clinical_features":"\"Four affected Labrador retriever puppies ... were evaluated for small stature, poor weight gain, bow legged stance, poor suckling, and weakness. In the first week 4 pups required supplemental tube feeding due to poor weight gain, and difficulties in prehension of food and swallowing. One of these 4 pups died during the first week and another pup was euthanized at 2.5 weeks of age. At the time of euthanasia at 6 weeks of age, body weights of the two remaining affected pups were half that of the normal pups (1.3 and 1.4 kg compared to 2.7–2.9 kg). ...  Serum CK activities were markedly elevated in all affected pups ranging from 10,587 to 23,638 IU/L (reference 59–895 IU/L).\" (Shelton et al. 2021)","defect":true,"group_name":"Muscular dystrophy-dystroglycanopathy, LARGE1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2460,"omia_phene_id":4760,"omia_record_id":"OMIA:002460-9615","publication_ids":[122682,122683],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4760","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Caudal cruciate ligament disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2463,"omia_phene_id":4763,"omia_record_id":"OMIA:002463-9615","publication_ids":[122675],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4763","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Dogo Argentino (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200445"}],"characterised":true,"characterised_year":2021,"clinical_features":"Rudd Garces et al. (2021) \"investigated a family of nine Dogo Argentino dogs, in which two dogs were affected by disproportionate dwarfism. Radiographs of an affected dog revealed a decreased level of endochondral ossification in its growth plates, and a premature closure of the distal ulnar physes.\"<br>Mäkeläinen et al. (2025): \"affected [Dalmation] dogs had short legs and showed clear gait abnormalities. The front legs were curved with an outward-angled elbow joint and an outward rotation of the paw. Due to the severity of the condition, the affected dogs were euthanized ....\"","defect":true,"group_name":"Dwarfism, PRKG2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Rudd Garces et al. (2021) reported evidence consistent with autosomal recessive inheritance.","mondo_terms":[],"name":"","omia_group_id":1485,"omia_phene_id":4767,"omia_record_id":"OMIA:001485-9615","publication_ids":[122697,131148],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4767","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Italian Cane Corso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200712"}],"characterised":true,"characterised_year":2021,"clinical_features":"Christen et al. (2021): \"Affected dogs developed dental-skeletal-retinal anomaly (DSRA), clinically characterized by brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting in vision loss.\"","defect":true,"group_name":"Dental-skeletal-retinal anomaly, MIA3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2465,"omia_phene_id":4768,"omia_record_id":"OMIA:002465-9615","publication_ids":[122698,122699,122700,125653,126610,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4768","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2021,"clinical_features":"","defect":false,"group_name":"Hyperlipidaemia/atherosclerosis, APOE-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2063,"omia_phene_id":4785,"omia_record_id":"OMIA:002063-9615","publication_ids":[122718,123798,123799,123800],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4785","source_release":"retrieved-2026-09-12","summary":"Zhao et al. (2021) \"report hypercholesterolemia [hypercholesterolaemia] and severe atherosclerosis characterized by stenosis and occlusion of arteries, together with clinical manifestations of stroke and gangrene, in ApoE knockout dogs generated by CRISPR/Cas9 and cloned by somatic cell nuclear transfer technologies.\"\r\n\r\nThis study involves genetically modified organisms (GMO).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lymphangiosarcoma","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2476,"omia_phene_id":4807,"omia_record_id":"OMIA:002476-9615","publication_ids":[122782,124712],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4807","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"}],"characterised":true,"characterised_year":2021,"clinical_features":"Hitti-Malin et al. (2021):\" In addition to PRA, additional clinical features in homozygous dogs support the discovery of a novel syndromic PRA in the breed.\"","defect":true,"group_name":"Bardet-Biedl syndrome 2","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2484,"omia_phene_id":4816,"omia_record_id":"OMIA:002484-9615","publication_ids":[122856,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4816","source_release":"retrieved-2026-09-12","summary":"Hitti-Malin et al. (2021) \"elucidate the causal variant for a distinct form of [progressive retinal atrophy] PRA in the Shetland sheepdog, using a whole-genome sequencing approach.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"American Eskimo Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200046"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Landseer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200809"}],"characterised":true,"characterised_year":2007,"clinical_features":"Variants in the gene that encodes CalDAG-GEFI cause decreased fibrinogen receptor activation (Cortese et al., 2020) and severely impaired or absent platelet aggregation response to adenosine diphosphate, collagen, and platelet activating factor (Boudreaux et al., 2007). There is also a delayed but full response to thrombin (Boudreaux, 2012). The clot retraction assay is normal (Boudreaux, 2012), but the kinetics are impaired – the time to full aggregation is prolonged to 4-6min compared to 3min in unaffected dogs (Cortese et al., 2020). Clinically, affected dogs experience epistaxis, gingival bleeding and petechiation on mucous membranes and skin, and prolonged bleeding time (Boudreaux et al., 2007). Platelet counts and coagulation screening tests will have normal results (Boudreaux, 2012). Some affected Basset Hounds may present with weakness and rear limb paralysis secondary to spinal cord haemorrhage (Boudreaux, 2012). IT thanks DVM student Jovial Zheng, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Thrombopathia, RASGRP2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014386","iri":"http://purl.obolibrary.org/obo/MONDO_0014386","label":"platelet-type bleeding disorder 18"}],"name":"CalDAG-GEFI thrombopathia; CalDAG-GEFI platelet disorder","omia_group_id":2433,"omia_phene_id":4892,"omia_record_id":"OMIA:002433-9615","publication_ids":[21300,48072,109385,109482,109569,113685,116410,124969],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4892","source_release":"retrieved-2026-09-12","summary":"Boudreaux et al. (2007) reported likely causal variants in Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I (CalDAG-GEFI). Based on NCBI information the gene name was listed as RASGRP1 gene in OMIA. A recent BLAST search of the published data identified that the correct gene name is RASGRP2. Information from OMIA 001003-9615 'Thrombopathia in Canis lupus familiaris' was moved to this entry and variant table information was updated accordingly [22/01/2022].","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"}],"characterised":true,"characterised_year":2022,"clinical_features":"Bellamy et al. (2022): \"Owners reported an abnormal gait, especially in the pelvic limbs, of the affected dogs from around 4 weeks of age. The puppies were said to be unsteady, easily slipping on the floor with the pelvic limbs, occasionally falling over. In addition, they all had a hanging tail instead of the curled tail normal for this spitz breed. ... On neurological examination, the body posture was kyphotic with a broad-based pelvic limb stance. The gait was moderately ataxic with hypermetric tendencies, most prominent in the pelvic limbs.\"","defect":true,"group_name":"Ataxia, HACE1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Pedigree analysis of eight affected dogs from 5 litters suggested an autosomal recessive mode of inheritance (Bellamy et al., 2022)","mondo_terms":[],"name":"","omia_group_id":2522,"omia_phene_id":4896,"omia_record_id":"OMIA:002522-9615","publication_ids":[123049,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4896","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Anal gland disease","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"anal sac disease; anal sacculitis","omia_group_id":2523,"omia_phene_id":4899,"omia_record_id":"OMIA:002523-9615","publication_ids":[118172,123061,123062,123063,123064,123065],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4899","source_release":"retrieved-2026-09-12","summary":"Breed predispositions have been reported.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2022,"clinical_features":"","defect":false,"group_name":"Height, IGF1-AS-associated body-size variation","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2524,"omia_phene_id":4901,"omia_record_id":"OMIA:002524-9615","publication_ids":[119103,123077,123078,125653],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4901","source_release":"retrieved-2026-09-12","summary":"Plassais et al. (2022): “Domestic dogs (Canis lupus familiaris) are the most variable-sized mammalian species on Earth … . Analyses of over 200 domestic breeds have identified approximately 20 body size genes … . Of these, insulin-like growth factor 1 (IGF1) predominates, controlling approximately 15% of body size variation between breeds [Plassais et al., 2019]. …, to identify and elucidate the role of an ancestral IGF1 allele in the propagation of modern canids, we analyzed 1,431 genome sequences from 13 species, including both ancient and modern canids, thus allowing us to define the evolutionary history of both ancestral and derived alleles at this locus. We identified a single variant [SNP rs22397284; chr15:41219654.g.T<C] …in an antisense long non-coding RNA (IGF1-AS) that interacts with the IGF1 gene, creating a duplex. While the derived mutation predominates in both modern gray wolves and large domestic breeds, the ancestral allele, which predisposes to small size, was common in small-sized breeds and smaller wild canids.”","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Rupture of the anterior cruciate ligament (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2527,"omia_phene_id":4917,"omia_record_id":"OMIA:002527-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4917","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"}],"characterised":true,"characterised_year":2022,"clinical_features":"","defect":true,"group_name":"Centronuclear myopathy 1, DNM2-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Böhm et al. (2022): \"In order to establish a large animal model for longitudinal and preclinical studies on the muscle disorder, we collected sperm samples from the Border Collie male and generated a dog cohort for subsequent clinical, genetic, and histological investigations. Four of the five offspring carried the DNM2 mutation and showed muscle atrophy and a mildly impaired gait.\"","mondo_terms":[],"name":"Autosomal dominant centronuclear myopathy","omia_group_id":2534,"omia_phene_id":4936,"omia_record_id":"OMIA:002534-9615","publication_ids":[123123,123448,123449],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4936","source_release":"retrieved-2026-09-12","summary":"Böhm et al. (2022) proposed that affected dogs be called DNM2-CNM dogs.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Wirehaired Pointing Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201427"}],"characterised":true,"characterised_year":2022,"clinical_features":"Rudd Garces et al. (2022): \"A breeder noticed signs of body imbalance in the affected puppies and difficulties following the other littermates at 8 weeks of age. Private clinical and ophthalmological examinations revealed the presence of opaque spots in the eyes and blindness, corresponding to signs of juvenile cataract\".","defect":true,"group_name":"Cataract, FYCO1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Rudd Garces et al. (2022) \"investigated an inbred family of Wirehaired Pointing Griffon dogs in which three offspring were affected by juvenile cataract. The pedigree suggested monogenic autosomal recessive inheritance of the trait.\"","mondo_terms":[],"name":"Juvenile cataract (FYCO1-frameshift deletion)","omia_group_id":2536,"omia_phene_id":4938,"omia_record_id":"OMIA:002536-9615","publication_ids":[123128,125219],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4938","source_release":"retrieved-2026-09-12","summary":"Other forms of inherited cataract have been been described in other breeds, for examples see '<a href=\"../../../../../../OMIA001758/9615/\">OMIA:001758-9615</a> - Cataract, early onset, HSF4-related' and '<a href=\"../../../../../../OMIA000168/9615/\">OMIA:000168-9615 </a>-Cataract, generic'.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"}],"characterised":true,"characterised_year":2017,"clinical_features":"Tachypnea and noisy respiration. Shortly before death: respiratory distress, characterized by strenuous and rapid respirations, together with cyanosis and vomiting.","defect":true,"group_name":"Respiratory distress syndrome, ANLN-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Eleven affected dogs were from 4 litters, all having a common ancestor. Segregation analysis suggested autosomal recessive inheritance. (Jarvinen et al., 2009)","mondo_terms":[],"name":"Also known as Acute respiratory distress syndrome (ARDS)","omia_group_id":2539,"omia_phene_id":4943,"omia_record_id":"OMIA:002539-9615","publication_ids":[58803,117504,117505],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4943","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Cardigan Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200290"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Dandie Dinmont Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200429"},{"name":"Lancashire Heeler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200808"},{"name":"Norwich Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200962"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Petit Basset Griffon Vendeen (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201009"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Skye Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201240"},{"name":"Swedish Vallhund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201316"},{"name":"Tibetan Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201352"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":true,"characterised_year":2009,"clinical_features":"Even though chondrodysplasia is normally regarded as a defect, this canine mutation is not classified as a defect because, as noted by Parker et al. (2009), it is a \"a short-legged phenotype that defines at least 19 dog breeds including dachshund, corgi, and basset hound\".","defect":false,"group_name":"Chondrodysplasia, FGF4 retrogene-related","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"Bannasch et al. (2022): \"Using individual measurements of height at the shoulder, back length, head width, thorax depth and width, and thoracic limb measurements, we evaluated the combined effects of FGF4 retrogenes [FGF4L1 and FGF4L2] within\" two breeds that segregate both retrogenes, namely Alpine Dachsbracke and the Schweizer Niederlaufhund. They found that \"both retrogenes had significant effects reducing height at the shoulders and antebrachial length, with FGF4L1 having a much greater effect than FGF4L2. FGF4L1 alone influenced the degree of carpal valgus and FGF4L2 alone increased head width. Neither retrogene had an effect on thorax width or depth.\"","mondo_terms":[],"name":"","omia_group_id":2542,"omia_phene_id":4947,"omia_record_id":"OMIA:002542-9615","publication_ids":[3989,109172,109832,109833,111402,117799,117800,117801,120869,123130,124358,129079],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4947","source_release":"retrieved-2026-09-12","summary":"\"Two FGF4 retrogenes (FGF4L1 on chromosome 18 [omia.variant:694] and FGF4L2 on chromosome 12 [omia.variant:853]) have been identified to cause dwarfism across many dog breeds. Some breeds are nearly homozygous for both retrogenes (e.g., Dachshunds) and others are homozygous for just one (e.g., Beagles and Scottish Terriers)\" (Bannasch et al., 2022)","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Repetitive behaviour","inheritance":null,"inheritance_text":"Sulkama et al. (2022) \"identified breed differences in repetitive behaviour, suggesting that some breeds are more vulnerable to repetitive behaviour and indicate a genetic susceptibility\".","mondo_terms":[],"name":"","omia_group_id":2545,"omia_phene_id":4950,"omia_record_id":"OMIA:002545-9615","publication_ids":[123154,126029],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4950","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Swimmer puppy syndrome (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2546,"omia_phene_id":4952,"omia_record_id":"OMIA:002546-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4952","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"}],"characterised":true,"characterised_year":2022,"clinical_features":"Kawakami et al. (2022): \"Rhodesian Ridgebacks exhibit a progressive postnatal deafness which may be observed as early as four months of age but more commonly observed within 1–2 years after birth . . .  . This form of deafness, hereafter referred to as early onset adult deafness (EOAD), does not appear to be restricted to a specific bloodline because it has been identified in multiple Rhodesian Ridgeback populations, including North America, Europe, and Africa.  . . .  All affected dogs are visually indistinguishable from dogs with normal hearing by having fully pigmented coat, eyes, and noses, indicating that EOAD in Rhodesian Ridgebacks likely has a different genetic basis from pigmentation-related deafness.\" In their 2022 study, Kawakami et al. \"identified 23 EOAD-affected Rhodesian Ridgebacks (11 males and 12 females) that were confirmed deaf by BAER testing; these dogs lost their hearing approximately from 6 months to 24 months after birth. All of the dogs were bilaterally deaf.\"","defect":true,"group_name":"Deafness, EPS8L2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Kawakami et al. (2022) reported that \"A segregation pattern of this deletion in a 2-generation nuclear family indicated an autosomal recessive mode of inheritance.\"","mondo_terms":[],"name":"Early onset adult deafness","omia_group_id":2550,"omia_phene_id":4956,"omia_record_id":"OMIA:002550-9615","publication_ids":[113443,119930,123175,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4956","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bull Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200253"}],"characterised":true,"characterised_year":2022,"clinical_features":"Carmichael et al. (1983) provided the first clinical and pathological description of the disease. The most striking findings were ataxia, visual impairment and changes in behaviour. Cristen et al. (2022) \"investigated two young Bullmastiffs showing similar clinical signs. They developed progressive gait and behavioural abnormalities with an onset at around 6 months of age. Neurological assessment was consistent with a multifocal brain disease. Magnetic resonance imaging of the brain showed intra-axial bilateral symmetrical focal lesions localised to the cerebellar nuclei. Based on the juvenile age, nature of neurological deficits and imaging findings, an inherited disorder of the brain was suspected.\"","defect":true,"group_name":"Mitochondrial fission encephalopathy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"As reported by Cristen et al. (2022), evidence for autosomal recessive inheritance of this disorder in Bullmastiffs was provided by Carmichael et al. (1983). Cristen et al. (2022) reported that \"Genotypes [at the MFF locus] in a cohort of four affected and 70 unaffected Bullmastiffs showed perfect [autosomal recessive] segregation with the disease phenotype. . . . All four available cases were homozygous mutant, one obligate carrier was heterozygous and none of the 70 unaffected dogs were homozygous for the mutant allele.\"","mondo_terms":[{"id":"MONDO:0014905","iri":"http://purl.obolibrary.org/obo/MONDO_0014905","label":"encephalopathy due to defective mitochondrial and peroxisomal fission 2"}],"name":"Mitochondrial fission encephalopathy; familial cerebellar ataxia with hydrocephalus","omia_group_id":2551,"omia_phene_id":4957,"omia_record_id":"OMIA:002551-9615","publication_ids":[123218,123219,123610,123611,127478],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4957","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"}],"characterised":true,"characterised_year":2022,"clinical_features":"Kiener et al. (2022): \"An 18-month-old spayed female Chihuahua was referred to the dermatology consultation for suspicion of EDS. The first clinical signs were noted on both eyes during puppyhood, at which time the dog was presented to the ophthalmologist with a diagnosis of corneal endothelial dystrophy. Moreover, its skin was hyperextensible . . . and abnormalities were noted on the face around the eyes and on the extremities where the skin was fragile and tore easily after scratching or rubbing . . .  . Several episodes of wounds on the trunk after minor injuries or scratching were also reported\".","defect":true,"group_name":"classical Ehlers-Danlos syndrome (cEDS), COL5A2-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Kiener et al. (2022): \"The genotyping results of both parents revealed that COL5A2:c.3388_3414del represented a de novo variant as the mutant allele was absent from buccal cell DNA of both parents.\"","mondo_terms":[{"id":"MONDO:0019568","iri":"http://purl.obolibrary.org/obo/MONDO_0019568","label":"Ehlers-Danlos syndrome, classic type, 2"}],"name":"classical Ehlers-Danlos syndrome (cEDS), COL5A2-related; Ehlers-Danlos syndrome, classic type, 2","omia_group_id":2295,"omia_phene_id":4959,"omia_record_id":"OMIA:002295-9615","publication_ids":[123348,123365,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4959","source_release":"retrieved-2026-09-12","summary":"This phene has been renamed from \"Ehlers-Danlos syndrome, classic type, 2\"   to \"classical Ehlers-Danlos syndrome (cEDS), COL5A2-related\" in OMIA on the basis of the review on human Ehlers-Danlos syndromes by Malfait et al. (2020) [2/6/2022].","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"}],"characterised":true,"characterised_year":2022,"clinical_features":"Abitbol et al. 2022 reported \"The owners noticed the first signs between 4 and 19 months. They described hypermetria, bunny-hopping, wobbly and stiff gait on the pelvic limbs, and difficulties in walking up or down the stairs and in getting up. The initial neurological examination revealed moderate ataxia, more obvious on the pelvic limbs, with slight hypermetria and slight to no proprioceptive deficits on the pelvic limbs. Two of the five dogs showed discrete intention tremors. These signs suggested symmetrical cerebellar involvement. Motor deficits progressed toward the inability to walk without help from the age of 30 to 44 months. Neurological examination at this stage revealed non-ambulatory tetraparesis or tetraplegia. Severe spasticity of the hind limbs and proprioceptive deficits on all four limbs were present in all affected dogs. An absent menace-response was observed in two dogs. Neuroanatomical diagnosis was therefore suggestive of multifocal central nervous system damage. ... Four of the five affected dogs were euthanized between24 and 39 months of age.\"","defect":true,"group_name":"Myeloencephalopathy, progressive degenerative, PNPLA8-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"hereditary ataxia","omia_group_id":827,"omia_phene_id":4971,"omia_record_id":"OMIA:000827-9615","publication_ids":[123435,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4971","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cardigan Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200290"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":true,"characterised_year":2022,"clinical_features":"The severity of the clinical phenotype depends on the specific KRT5 variant. Kiener et al. (2022) \"examined a Cardigan Welsh Corgi puppy [heterozygous for p.E476K] with skin blistering and erosions that were noticed shortly after birth. It was one of a litter of three puppies, in which both other littermates and the parents were healthy. The affected dog was smaller than the littermates. Vesicles and ulcers were extensively present in the oral cavity, lips and paw pads . . . . Gentle pressure on the skin near affected areas would result in sloughing of the adjacent epidermis (positive Nikolsky sign; ...). The puppy was given supplementary nutrition and adopted by a veterinarian at 10 weeks of age. At that time, the lesions in the oral cavity had healed and the dog was able to eat normally. The dog continued to have waxing and waning lesions on the paw pads, ears, axilla and groin. Blisters would arise intermittently, ulcerate and heal with scarring.\"<br>Rietmann et al. (2024) \"studied a family of German Shepherd dogs, in which four dogs developed intermittent paw pad lesions and lameness.\" The clinical phenotype in German Shepherd dogs with the p.Asn330_Asp335del variant was restricted to the paw pad epidermis and less severe than the phenotype in Cardigan Welsh Corgi with the p.E476K variant.","defect":true,"group_name":"Epidermolysis bullosa simplex, KRT5-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"The NP_001332964.1:p.Asn330_Asp335del allele observed in German Shepherd dogs with split paw pad disease most likely shows incomplete penetrance (Rietmann et al. 2024).","mondo_terms":[],"name":"epidermolysis bullosa simplex, split paw pad disease","omia_group_id":2081,"omia_phene_id":4979,"omia_record_id":"OMIA:002081-9615","publication_ids":[120908,123526,127543,127545,127546],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4979","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2022,"clinical_features":"Holland et al. (1991) \"A polysystemic disorder was observed in three related English Springer Spaniel dogs that demonstrated regurgitation from an early age, slowly progressive temporal muscle atrophy with partial trismus, and less pronounced generalized skeletal muscle atrophy. All dogs exhibited moderate dyserythropoietic anemia, polymyopathy with megaesophagus, and varying degrees of cardiomegaly.\" Østergård Jensen et al. (2022) investigated five affected Swedish ESSPs, as well as tissue samples from two puppies who died within the first day: \"all dogs affected with DAMS appeared slightly stunted, less well muscled, and less active compared to their littermates during the first few weeks of life. ... [The dogs presented later with] exercise intolerance, weakness, and regurgitation from puppyhood. In addition, difficulties opening and closing the mouth, dysphagia, and difficulty in lapping water ... , as well as aspiration pneumonia ... , seizures ... , and chronic diarrhea ... , were noted in the affected juvenile dogs. The affected dogs were 0.7 to 4 years of age at the initial examination and were followed over a period from two months to three years. ... Progressive weakness, muscle atrophy—particularly of the temporal and pelvic muscles—trismus, dysphagia, and regurgitation due to megaesophagus were observed at all ages. Affected dogs had a non-regenerative, microcytic hypochromic anemia with metarubricytosis, target cells, and acanthocytes. Marked erythroid hyperplasia and dyserythropoiesis with non-orderly maturation of erythrocytes and inappropriate microcytic metarubricytosis were present. ... The five affected dogs ... were euthanized at approximately 1, 1.5, 5, 7, and 7.5 years of age, respectively, due to failure to thrive, progressive clinical signs, and poor quality of life. ... [The] two puppies (in a litter of nine) that died shortly after birth were homozygous for the EHBP1L1 variant. ... These neonatal losses indicate that EHBP1L1 deficiency could also be a cause of neonatal death in dogs, but the specific cause of death was not determined.\"\r\n\r\nThomas-Hollands et al. (2021): \"Two Labrador retriever littermates were identified based on incidentally noted marked microcytosis and inappropriate metarubricytosis. Muscle atrophy was noted and associated with distinctive pathological findings in biopsy samples from 1 dog studied. ... the dogs ... did not have apparent cardiac disease.\"","defect":true,"group_name":"Dyserythropoietic anemia and myopathy syndrome","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Østergård Jensen et al. (2022): \"Pedigree analysis confirmed that the affected ESSPs were related. Variant genotyping showed appropriate complete segregation in the family, which was consistent with an autosomal recessive mode of inheritance\".","mondo_terms":[],"name":"","omia_group_id":2564,"omia_phene_id":4980,"omia_record_id":"OMIA:002564-9615","publication_ids":[22529,123527,123528,123536,128923],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4980","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Gallbladder, agenesis of","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2567,"omia_phene_id":4991,"omia_record_id":"OMIA:002567-9615","publication_ids":[122014,123562,123563,123564,123565,123566],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4991","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Poodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201048"}],"characterised":true,"characterised_year":2022,"clinical_features":"","defect":false,"group_name":"Coat colour, dark red","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2569,"omia_phene_id":4994,"omia_record_id":"OMIA:002569-9615","publication_ids":[123582],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4994","source_release":"retrieved-2026-09-12","summary":"Batcher et al. (2022): \"The Poodle breed has a wide range of officially recognized coat colors, including the pheomelanin-based white, cream, apricot and red coat colors, which are not fully explained by the previously identified genetic variants involved in pigment intensity.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Briard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200234"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Night blindness","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2580,"omia_phene_id":5025,"omia_record_id":"OMIA:002580-9615","publication_ids":[31307,38909,54486,59958,124796],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5025","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beauceron (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200136"}],"characterised":true,"characterised_year":2022,"clinical_features":"Affected puppies exhibit bilateral sensineural deafness from birth, which can be assessed by either behavioral tests or brainstem auditory evoked response (BAER) examinations. No other signs were noted by the owners or attending veterinarians (Abitbol et al. 2022).","defect":true,"group_name":"Deafness, CDH23-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Abitbol et al. (2022): \"Pedigree analysis suggested an autosomal recessive transmission. \"","mondo_terms":[],"name":"","omia_group_id":2584,"omia_phene_id":5040,"omia_record_id":"OMIA:002584-9615","publication_ids":[123770,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5040","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"}],"characterised":true,"characterised_year":2022,"clinical_features":"Christen et al. (2022): \"A male neutered CKCS, born out of reportedly healthy parents, was presented at the age of 1.5 years, with an acute history of suspected complex focal seizures including prolonged lethargy, being less responsive and proprioceptive ataxia. These episodes initially occurred several times a week, lasting from 20 min to multiple hours during which the dog was mainly lethargic.\" The dog was started on anticonvulsant medication, which did not result in complete suppression of the seizures. After diagnosis of MCAD deficiency, \"...the dog was prescribed a low-fat diet and a midnight snack consisting of carbohydrates. Prolonged periods of fasting and formulas that contained medium-chain triglycerides as primary source of fat were also advised to avoid. This management protocol correlated with a complete resolution of clinical signs for the following 6 months. The anticonvulsant medication was therefore reduced to subtherapeutic levels. However, this was reversed as the dose reduction resulted in an increase in seizure frequency.\" ... \"At the time of writing, the dog has been stable for 9 months on 25 mg/kg levetiracetam three times a day, 3 mg/kg phenobarbital twice a day and a low-fat diet, with no further major seizures and a repeated normal neurological examination.\"\r\nChristen et al. (2022) noted that the clinical genotype-phenotype correlation remains unclear. While the ACADM variant causes the biochemical alteration in the blood acylcarnitine profiles, it is not fully clear whether the MCAD deficiency is also the (only) cause of the clinical signs of the studied patient. Christen et al. (2022) wrote: \"MCAD deficiency in dogs seemingly does not clinically manifest as severe as in humans. However, our data show a clear increase in MCFAs in ACADM homozygous mutant dogs. This might point to an additional compensatory mechanism in the dog, which prevents or dampens the manifestation of clinical consequences of elevated MCFAs. In humans, phenotypic diversity ranging from sudden neonatal death to asymptomatic status has previously been reported. Human patients with complete loss of MCAD activity can also remain asymptomatic, suggesting that additional genetic or environmental factors may play a role in the phenotypic diversity. Additional genetic or environmental factors are also likely to modulate the phenotype in MCAD deficient dogs. The improvement of clinical signs upon changing to a low-fat diet in our index case indicates that the diet has a major influence on the clinical phenotype. At this time, we cannot exclude the possibility that additional genetic factors also modified the clinical phenotype. While our data conclusively demonstrate that the ACADM frameshift variant causes MCAD deficiency and the biochemical alterations in the lipid metabolism, it is not yet fully clear whether the MCAD deficiency alone is responsible for the clinical phenotype or whether additional environmental and/or genetic risk factors are required for the expression of clinical signs. The identification of the ACADM frameshift variant enables genetic testing for MCAD deficiency and will facilitate future prospective studies to clarify this important question.\"","defect":true,"group_name":"Acyl-CoA dehydrogenase, medium chain, deficiency of","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008721","iri":"http://purl.obolibrary.org/obo/MONDO_0008721","label":"medium chain acyl-CoA dehydrogenase deficiency"}],"name":"Also known as medium-chain acyl-CoA dehydrogenase (MCAD) deficiency","omia_group_id":2585,"omia_phene_id":5041,"omia_record_id":"OMIA:002585-9615","publication_ids":[123771,123773,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5041","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Fila Brasileiro (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200520"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cardiomyopathy, arrhythmogenic left ventricular","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2588,"omia_phene_id":5055,"omia_record_id":"OMIA:002588-9615","publication_ids":[123803],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5055","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2022,"clinical_features":"Bullock et al. (2022): “The disease [in Dalmatians] is characterized by anxiety, pacing and circling, hypersensitivity, cognitive decline, sleep disturbance, loss of coordination, loss of control over urination and defecation, and visual impairment. Neurological signs first became apparent when the dogs were approximately 18 months of age and progressed slowly. Two affected littermates were euthanized at approximately 7 years, 5 months and 8 years, 2 months of age due to the severity of neurological impairment. The mother of the affected dogs and four other relatives exhibited milder, later-onset neurological signs.”<br>Keller et al. (2024) report a male Weimaraner: \"Clinical signs included fecal incontinence, lethargy, moderate paraparesis, proprioceptive pelvic limb ataxia, falling, cognitive decline, incoordination, decreased interest in food, changes in posture, and episodes of trance-like behavior. Neurologic signs were first observed at approximately 4 years, 10 months of age and progressed slowly. Magnetic resonance imaging showed generalized brain atrophy with areas of white matter pathology. Humane euthanasia was elected at 6 years, 7 months of age due to increasing severity of the neurological signs\"","defect":true,"group_name":"Lysosomal storage disease, CNP-related","inheritance":{"code":"AID","name":"Autosomal incomplete dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2591,"omia_phene_id":5063,"omia_record_id":"OMIA:002591-9615","publication_ids":[123819,127251,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5063","source_release":"retrieved-2026-09-12","summary":"Bullock et al. (2022) report a progressive neurological disorder in purebred Dalmatian dogs with similarities to the neuronal ceroid lipofuscinoses. Keller et al. (2024) report a Weimaraner with the same condition caused by a different variant in the <em>CNP</em> gene.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Iris sphincter dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2599,"omia_phene_id":5072,"omia_record_id":"OMIA:002599-9615","publication_ids":[123851,125219],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5072","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists 2015): \"Defective development of the iris, or part of the iris, resulting in an immature state. ISD [Iris sphincter dysplasia] is the result of poorly developed iris sphincter muscles. The pupils of dogs with ISD do not properly contract in bright light. Dogs usually are uncomfortable and often squint in sunlight. The disorder exposes the interior of the eye to ultraviolet light that may potentially cause serious vision problems, such as cataracts or retinal damage, as dogs age.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Working Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201434"}],"characterised":true,"characterised_year":2022,"clinical_features":"Clinical presentation in the two forms of CA in Australian Kelpies mainly differ in regard to onset of clinical signs. The form with later onset of disease at 4-6 month of age is associated with the VMP1 variant (Wade et al., 2022). Clinical signs include ataxia, wide-based stance, head tremors/intention tremor, dysmetria/incoordination, hypermetria/high-stepping gate, decreased limb proprioception (particularly hind limbs), and/or body tremors when excited. The condition is non-painful and does not affect the dog’s normal mentation or alertness. More severe forms can include fitting/grand mal seizures when overheated or excited. The condition may present mildly with only occasional periods of incoordination and no progression to more severe forms. Commonly, it will present with signs that become more obvious or progress as the animal ages (Thomas and Robertson, 1989; Shearman et al., 2008; Shearman et al., 2011; Pan et al., 2017; Wade et al., 2022).\r\nIT thanks DVM student Beatrice Humphries, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Cerebellar abiotrophy, VMP1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2602,"omia_phene_id":5077,"omia_record_id":"OMIA:002602-9615","publication_ids":[110225,110226,111657,117815,123862,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5077","source_release":"retrieved-2026-09-12","summary":"Cerebellar abiotropy has been first described in Australian kelpies by Thomas and Robertson in 1989. Wade et al. (2022) \"identified two distinct clinical and pathological features of CA in Australian working kelpies. These were associated with two separate genomic regions ...  An early-onset CA form is observable within a few weeks of birth and in some cases is seen within days of birth. This form affects dogs that are homozygous for a risk marker on CFA20 [see 'OMIA 000175-9615 : Cerebellar abiotrophy in Canis lupus familiaris']. A second region of association, identified on CFA9, is associated with a later-onset form of CA [described in this OMIA entry] that is not usually diagnosed until the dogs are 4–6 months or older.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Vizsla (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201389"}],"characterised":true,"characterised_year":2022,"clinical_features":"Ludwig-Peisker et al. (2022) measured shoulder heights in 29 adult Vizslas that had been genotyped for the PCYT1A:p.Y225H variant. The shoulder height in 7 homozygous mutant dogs was highly variable. On average, homozygous mutant dogs were ~11 cm shorter than dogs with at least one wildtype PCY1A allele. Ludwig-Peisker et al. (2022) found no size differences between homozygous wildtype and heterozygous dogs. Radiographs of affected dogs showed shortened and thickened radius and ulna with procurvatum and varus deformity. The humerus in an affected dog was also markedly shortened with flattened articular surfaces. Similar changes were seen in the hind limbs with marked shortening and deformity of the femur resulting in subluxation of the hip joint and secondary deformity of the acetabula. So far, no clinically overt consequences such as osteoarthritis and lameness due to the skeletal changes have been observed in the affected dogs. However, the oldest affected dog in Ludwig-Peisker et al. (2022) was only 7 years old. Human patients with PCYT1A variants are affected by spondylometaphyseal dysplasia with cone-rod dystrophy and develop an early-onset progressive visual impairment associated with a pigmentary maculopathy and cone-rod dysfunction. The ophthalmologic examination of a single affected Vizsla at seven years of age did not reveal any signs of cone-rod dystrophy (Ludwig-Peisker et al. 2022).","defect":true,"group_name":"Skeletal dysplasia 3, PCYT1A-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Skeletal dysplasia 3; disproportionate dwarfism","omia_group_id":2606,"omia_phene_id":5084,"omia_record_id":"OMIA:002606-9615","publication_ids":[123922],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5084","source_release":"retrieved-2026-09-12","summary":"Skeletal dysplasia 3 (SD3) is a moderately severe form of disproportionate dwarfism in Vizslas. Affected dogs have short legs and their shoulder height is reduced by ~11 cm compared to non-affected dogs. Skeletal dysplasia represents a highly heterogenoues group of diseases with more than 400 distinct entitities described in humans.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2016,"clinical_features":"","defect":false,"group_name":"Modifier of copper toxicosis, ATP7A-related","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2608,"omia_phene_id":5091,"omia_record_id":"OMIA:002608-9615","publication_ids":[66965,117198,119174,121367,122498,122845,124708,125653,127424,129662,133520],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5091","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2020,"clinical_features":"","defect":false,"group_name":"Modifier of copper toxicosis, RETN-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2609,"omia_phene_id":5092,"omia_record_id":"OMIA:002609-9615","publication_ids":[122498,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5092","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dystonia, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2069,"omia_phene_id":5094,"omia_record_id":"OMIA:002069-9615","publication_ids":[123965],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5094","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Parkinson disease, PARK7-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2488,"omia_phene_id":5098,"omia_record_id":"OMIA:002488-9615","publication_ids":[123982],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5098","source_release":"retrieved-2026-09-12","summary":"Kim et al. (2022) \"generated two genome-edited dogs. Both genome-edited dogs had insertion-deletion mutations at the target [DJ-1 - also known as PARK7] locus, and DJ-1 expression was either downregulated or completely repressed.\"\r\n\r\nThis study involves genetically modified organisms (GMO).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neoplasm, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2587,"omia_phene_id":5107,"omia_record_id":"OMIA:002587-9615","publication_ids":[25651,112933,117167,124011,124012,124325,124329,124371,124551,124718,124849,125021,125098,125132,125212,125350,125365,125368,125440,125491,125497,125519,125563,125571,125598,125737,125765,125815,125833,125981,125984,126009,126076,126128,126156,126250,126317,126365,126366,126406,126450,126529,126611,126646,126665,126749,126763,126838,126975,126978,126980,127045,127078,127098,127320,127334,127355,127366,127378,127380,127388,127611,127632,127771,127777,127930,128000,128045,128144,128185,128206,128207,128357,128404,128431,128432,128440,128456,128480,128496,128500,128556,128694,128812,128875,128911,128988,129018,129029,129084,129121,129208,129460,129473,129812,129818,129838,129859,129879,129900,129933,130040,130041,130062,130129,130178,130199,130299,130506,130569,130733,130776,130849,130871,130987,131004,131037,131600,131601,131602,131603,131604,131605,131606,131607,131608,131609,131610,131611,131612,131613,131614,131615,131616,131617,131618,131619,131620,131621,131622,131623,131624,131625,131626,131627,131628,131629,131630,131631,131632,131633,131634,131635,131997,131998,131999,132000,132025,132143,132156,132181,132239,132287,132374,132419,132535,132606,132611,132700,132827,132883,132919,132954,132970,132981,133043,133054,133060,133075,133106,133166,133251,133414,133474,133547,133562],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5107","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Testicular agenesis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2615,"omia_phene_id":5121,"omia_record_id":"OMIA:002615-9615","publication_ids":[124052,124053,124054,124055,124056,124057],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5121","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2023,"clinical_features":"Gutierrez-Quintana et al. (2023): \"Physical and neurological examinations showed the absence of superficial and deep pain perception in the entire body.\" The authors studied two affected littermates. One had to be euthanized at 2 months of age due to an infected and dislocated tibial and fibular fracture. The other affected littermate had to be euthanized at 10 months of age after having suffered multiple burns from sleeping too close to a heating radiator and other skin lesions.","defect":true,"group_name":"Neuropathy, hereditary sensory and autonomic, SCN9A-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009459","iri":"http://purl.obolibrary.org/obo/MONDO_0009459","label":"channelopathy-associated congenital insensitivity to pain, autosomal recessive"}],"name":"Congenital insensitivity to pain","omia_group_id":2616,"omia_phene_id":5124,"omia_record_id":"OMIA:002616-9615","publication_ids":[124068,124695,124696,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5124","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"}],"characterised":true,"characterised_year":2007,"clinical_features":"","defect":true,"group_name":"Nephropathy, COL4A4 related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008762","iri":"http://purl.obolibrary.org/obo/MONDO_0008762","label":"autosomal recessive Alport syndrome"}],"name":"Autosomal recessive hereditary nephropathy; Alport syndrome; autosomal recessive nephritis","omia_group_id":2618,"omia_phene_id":5126,"omia_record_id":"OMIA:002618-9615","publication_ids":[81111,82860,108336,114034,114035,120873,121581,125201,129207],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5126","source_release":"retrieved-2026-09-12","summary":"For other types of hereditary nephritis/nephropathy see also: 'OMIA:001112-9615: Nephritis, X-linked'; 'OMIA:001114-9615 Nephritis, autosomal dominant'; OMIA000708-9615: Nephritis' and 'OMIA:000413-9615 Glomerulonephritis'.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"}],"characterised":true,"characterised_year":2023,"clinical_features":"Christen et al. (2023) \"investigated an Australian Shepherd dog with a history of recurrent respiratory infections and nasal discharge.\" Disease onset was noticed at 8 weeks of age. The impaired mucociliary clearance and resulting recurrent airway infections required frequent treatments. The dog was 6 years old at the time of the investigation by Christen et al. (2023).","defect":true,"group_name":"Ciliary dyskinesia, primary, STK36-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0030332","iri":"http://purl.obolibrary.org/obo/MONDO_0030332","label":"ciliary dyskinesia, primary, 46"}],"name":"","omia_group_id":2623,"omia_phene_id":5138,"omia_record_id":"OMIA:002623-9615","publication_ids":[124132],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5138","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"},{"name":"Irish Wolfhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200706"},{"name":"Scottish Deerhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201195"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Delayed postoperative hemorrhage","inheritance":{"code":"ADIP","name":"Autosomal dominant with incomplete penetrance"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2631,"omia_phene_id":5157,"omia_record_id":"OMIA:002631-9615","publication_ids":[118634,124162,124163,131082,131083,131084,131085,131086,133245],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5157","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Meningioma","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2634,"omia_phene_id":5164,"omia_record_id":"OMIA:002634-9615","publication_ids":[124176,125739,127886,133372],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5164","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Anterior segment dysgenesis","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0019503","iri":"http://purl.obolibrary.org/obo/MONDO_0019503","label":"anterior segment dysgenesis"}],"name":"","omia_group_id":2636,"omia_phene_id":5170,"omia_record_id":"OMIA:002636-9615","publication_ids":[124203,124209],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5170","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thoracolumbar myelopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"thoracolumbar meningeal fibrosis; constrictive myelopathy, thoracolumbar spinal arachnoid diverticula","omia_group_id":2641,"omia_phene_id":5185,"omia_record_id":"OMIA:002641-9615","publication_ids":[124261,124269,124270,124271,124272,124273,124274,124275,130637,132338,133350],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5185","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Corneal ulceration","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2644,"omia_phene_id":5192,"omia_record_id":"OMIA:002644-9615","publication_ids":[124315,125316,126748,130512,132208],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5192","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"}],"characterised":true,"characterised_year":2023,"clinical_features":"Stee et al. (2020) report onset of episodes of myotonic-like generalised muscle stiffness post strenuous exercise (exercise-induced, climbing stairs, jumping) in affected dogs typically before they are 2 years of age. Episodes generally resolve in less than 45 seconds, but van Poucke et al. (2023) report that more severe episodes can be associated with apnoea and cyanosis. Stee et al. (2020) state that \"extreme outside temperatures seemed to considerably worsen episode frequency and severity in most dogs. Complete blood count, serum biochemistry including electrolytes, urinalysis, brain magnetic resonance imaging, cerebrospinal fluid analysis, electromyography, motor nerve conduction velocity, ECG, and echocardiography were unremarkable. Muscle biopsy samples showed moderate but nonspecific muscle atrophy.\"  IT thanks DVM student Adeline Choi, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Pseudomyotonia, paradoxical, SLC7A10-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2645,"omia_phene_id":5195,"omia_record_id":"OMIA:002645-9615","publication_ids":[120147,124328],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5195","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200585"}],"characterised":true,"characterised_year":2023,"clinical_features":"Bortolini et al. (2023): \"Initial fundus changes were pale papilla and mild vascular attenuation. Oscillatory nystagmus was noted in 14 of 16 clinically affected puppies. Vision was impaired under both scotopic and photopic conditions. Rod- mediated ERGs were unrecordable in all affected dogs tested, reduced cone-mediated responses were present in one animal at 3 months of age and unrecordable in the other affected animals tested. Multiple small retinal bullae were observed in three clinically affected animals ... . OCT showed that despite loss of function, retinal structure was initially well-preserved, although a slight retinal thinning developed in older animals with the ventral retina being more severely affected.\"","defect":true,"group_name":"Retinal atrophy, progressive, GUCY2D-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2646,"omia_phene_id":5196,"omia_record_id":"OMIA:002646-9615","publication_ids":[124332,125219,129719,130777],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5196","source_release":"retrieved-2026-09-12","summary":"Bortolini et al. (2023) \"describe the clinical, preliminary electroretinographic and optical coherence tomography features of a newly identified form of progressive retinal atrophy (PRA) in German Spitzes, and identify the causal gene mutation.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Caudal articular process dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2647,"omia_phene_id":5197,"omia_record_id":"OMIA:002647-9615","publication_ids":[124269,124333,124334,124335,124336,124337],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5197","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"}],"characterised":true,"characterised_year":2023,"clinical_features":"","defect":true,"group_name":"Ichthyosis, non-epidermolytic, SDR9C7-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0033092","iri":"http://purl.obolibrary.org/obo/MONDO_0033092","label":"ichthyosis, congenital, autosomal recessive 13"}],"name":"","omia_group_id":2659,"omia_phene_id":5235,"omia_record_id":"OMIA:002659-9615","publication_ids":[124476,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5235","source_release":"retrieved-2026-09-12","summary":"Kiener et al. (2023) \"investigated a 9-month-old Chihuahua showing excessive scale formation. Clinical and histopathological examinations revealed non-epidermolytic ichthyosis and a genetic defect was suspected. [The authors] therefore sequenced the genome of the affected dog and compared the data with 564 genetically diverse control genomes. Filtering for private variants identified a homozygous missense variant in SDR9C7, c.454C>T or p.(Arg152Trp).\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ureter abnormality","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2662,"omia_phene_id":5254,"omia_record_id":"OMIA:002662-9615","publication_ids":[124550],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5254","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2023,"clinical_features":"Christen et al. (2023): \"Four Weimaraner dogs (3 males and 1 female) from three different litters were presented for episodes of abnormal gait characterized by increased muscle contractions (dystonia), ataxia, and hypermetria, leading to occasional collapse. Kyphosis and low head carriage were also consistent features... . ... The age of onset was 3 to 7 months. Increased emotional arousal or exercise was reported to trigger the abnormal episodes, which could occur multiple times daily for 5 to 15 minutes. Two dogs displayed intermittent anisocoria associated with the episodes. Resting physical and neurological examinations were unremarkable in all cases, although the reported abnormalities were elicited by short periods of exercise in 3 dogs. Results of diagnostic investigations, including hematology, biochemistry, urine organic acids, lactate and pyruvate levels, enzymatic testing for storage diseases, acetylcholine receptor antibodies, muscle and nerve biopsies, MRI (brain and spinal cord), cerebrospinal fluid analysis, and electrophysiology, were mainly unremarkable\"","defect":true,"group_name":"Dystonia-ataxia syndrome, paroxysmal, TNR-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2663,"omia_phene_id":5259,"omia_record_id":"OMIA:002663-9615","publication_ids":[124587,128068,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5259","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Elliptocytosis, EPB41-related","inheritance":null,"inheritance_text":"The affected dog is a crossbred male and the offspring from a father-\r\ndaughter mating (Smith et al. 1983).","mondo_terms":[{"id":"MONDO:0012731","iri":"http://purl.obolibrary.org/obo/MONDO_0012731","label":"elliptocytosis 1"}],"name":"","omia_group_id":2682,"omia_phene_id":5308,"omia_record_id":"OMIA:002682-9615","publication_ids":[88159,124798,124799],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5308","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basenji (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200120"}],"characterised":true,"characterised_year":2011,"clinical_features":"Fanconi syndrome is a rare condition in dogs which results in abnormal renal function. More specifically, it causes reduced function of the proximal convoluted tubules (Yearley et al., 2004), resulting in reduced reabsorption of water, nutrients and electrolytes from the tubular fluid and their eventual loss in urine. The clinical consequences of this disease for the animal include polyuria and polydipsia, dehydration, weight loss and muscle weakness (Yearley et al., 2004). Most cases progress to renal failure within a few years of the onset of initial clinical signs Bovée et al. (1978, PMID:684432). IT thanks DVM student Harry Cahill, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Fanconi syndrome, FAN1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"spontaneous Fanconi syndrome, idiopathic Fanconi syndrome","omia_group_id":2683,"omia_phene_id":5309,"omia_record_id":"OMIA:002683-9615","publication_ids":[3836,7638,17740,28194,51547,107425,110073,110075,110076,110077,110078,110079,112126,115924,124800,128766],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5309","source_release":"retrieved-2026-09-12","summary":"Information listed here was previously listed under OMIA:000366-9615 : Fanconi syndrome in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"}],"characterised":true,"characterised_year":2006,"clinical_features":"Li et al. (2006): \"most affected [Australian cattle] dogs showed a moderate to severe generalized whole body tremor at 3–4 weeks of age. However, one affected pup in the third litter did not develop obvious neurological signs until 9 weeks of age. The tremor and dysmetric gait were typical of cerebellar involvement. All pups were initially able to ambulate but became progressively more ataxic over the next several weeks. Interestingly, each pup had a slightly different phenotypic expression of its disease, along with variability in the rapidity of disease progression. With time, the pups failed to grow, showed spasticity in all four limbs, and had an inability to ambulate with eventual lateral recumbency. ... Vision and audition remained intact as did nociception. Electrophysiological testing of CNS function showed abnormal brainstem auditory evoked responses with conduction delay, which was also seen in studies of conduction in the spinal cord ... . ... Affected [Shetland sheepdog] pups were smaller than normal littermates. The neurologic defects were variable, ranging from mild to severe and consisted of tremor, ataxia, paresis, rigidity and spasticity, inability to ambulate, dysphagia, and seizures. Clinical signs developed between 7 days and 3 weeks with some pups dying by 7 weeks of age. All laboratory blood testing was normal, although a CT scan of one affected pup showed dilation of the lateral and 4th ventricles and diffuse hypomyelination of the white matter (Wood and Patterson, 2001).\"","defect":true,"group_name":"Leukodystrophy, CYTB-related","inheritance":{"code":"MIT","name":"Mitochondrial"},"inheritance_text":"Li et al. (2006): \"Three litters of Australian cattle dog puppies were born to the same bitch with two different sires, with both male and female pups being affected ... . The sires did not produce any affected pups when mated to other females, .... ... A second family of dogs of a different breed (Shetland sheepdogs) was also studied (Wood and Patterson, 2001). In this family, three litters with affected pups were born to the same bitch and two different sires. A total of nineteen pups were born, twelve being affected. Six pups from the first litter, two from the second litter, and four from the third litter developed a progressive neurologic disease. Both sexes were affected.\"\r\nPedigree information suggested a maternal inheritance which was later confirmed as mitochondrial inheritance. As the mutation may only occur in some of the copies of mtDNA (heteroplasmy) not all puppies were affected and disease presented with variable levels of severity.","mondo_terms":[],"name":"canine spongiform leukoencephalomyelopathy; leucodystrophy; Shetland Sheepdog leukodystrophy","omia_group_id":2684,"omia_phene_id":5312,"omia_record_id":"OMIA:002684-9615","publication_ids":[98205,107730,124009,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5312","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cleft lip","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":444,"omia_phene_id":5313,"omia_record_id":"OMIA:000444-9615","publication_ids":[120073,123356,127232],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5313","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"}],"characterised":true,"characterised_year":2023,"clinical_features":"","defect":false,"group_name":"Hyposegmentation of granulocytes","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2700,"omia_phene_id":5345,"omia_record_id":"OMIA:002700-9615","publication_ids":[93076,120702,125302],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5345","source_release":"retrieved-2026-09-12","summary":"The phenotype has initially been termed Pelger-Huët anomaly due to the phenotypic similarity with human Pelger-Huët anomaly. However, the human Pelger-Huët anomaly is caused by variants in the LBR gene, while this entry refers to an LMBR1L-related phenotype characterized by hyposegmented granulocytes.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Infertility","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":562,"omia_phene_id":5362,"omia_record_id":"OMIA:000562-9615","publication_ids":[125011],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5362","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Miniature Australian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200881"}],"characterised":true,"characterised_year":2023,"clinical_features":"Heinonen et al. (2023) report Miniature Australian Shepherd dogs with \"episodes of muscle stiffness that could occasionally be triggered by acoustic stimuli.\"","defect":true,"group_name":"Hyperekplexia, GLRA1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0007868","iri":"http://purl.obolibrary.org/obo/MONDO_0007868","label":"hyperekplexia 1"}],"name":"","omia_group_id":689,"omia_phene_id":5367,"omia_record_id":"OMIA:000689-9615","publication_ids":[125026,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5367","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Macroglobulinaemia, Waldenström","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2706,"omia_phene_id":5370,"omia_record_id":"OMIA:002706-9615","publication_ids":[125047],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5370","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dermal arteritis, nasal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Dermal arteritis of the nasal philtrum; DANP; rostrolateral nasal alar arteriopathy","omia_group_id":2707,"omia_phene_id":5371,"omia_record_id":"OMIA:002707-9615","publication_ids":[125048,125049,125050],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5371","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Manchester Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200862"}],"characterised":true,"characterised_year":2023,"clinical_features":"Furrow et al. (2023): \"The Manchester Terrier provides a naturally occurring animal model of SCDY/DCM with disease manifesting as sudden death before 2 years of age, typically by 6 months [Legge et al. 2013].\"","defect":true,"group_name":"Cardiomyopathy, dilated, ABCC9-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012062","iri":"http://purl.obolibrary.org/obo/MONDO_0012062","label":"dilated cardiomyopathy 1O"}],"name":"Sudden cardiac death in the young (SCDY) and dilated cardiomyopathy (DCM)","omia_group_id":2710,"omia_phene_id":5376,"omia_record_id":"OMIA:002710-9615","publication_ids":[125068,125069],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5376","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Body weight","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2077,"omia_phene_id":5378,"omia_record_id":"OMIA:002077-9615","publication_ids":[125073],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5378","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Adrenal hyperplasia, congenital, CYP11B1-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008729","iri":"http://purl.obolibrary.org/obo/MONDO_0008729","label":"congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"}],"name":"","omia_group_id":1661,"omia_phene_id":5386,"omia_record_id":"OMIA:001661-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5386","source_release":"retrieved-2026-09-12","summary":"inactive&nbsp;","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cone degeneration","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2715,"omia_phene_id":5406,"omia_record_id":"OMIA:002715-9615","publication_ids":[82893],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5406","source_release":"retrieved-2026-09-12","summary":"Previously listed under OMIA:000881-9615 : Rod-cone dysplasia [07/06/2023]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":true,"characterised_year":2022,"clinical_features":"","defect":true,"group_name":"Megaoesophagus, MCHR2-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"congenital idiopathic megaesophagus, CIM","omia_group_id":2716,"omia_phene_id":5412,"omia_record_id":"OMIA:002716-9615","publication_ids":[111881,123131,125182,130288],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5412","source_release":"retrieved-2026-09-12","summary":"See also <a href=\"../../../../../../OMIA000631/9615/\">OMIA:000631-9615</a> : Megaoesophagus, generic in Canis lupus familiaris (dog)&nbsp;","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sacral agenesis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2420,"omia_phene_id":5417,"omia_record_id":"OMIA:002420-9615","publication_ids":[125224],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5417","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Papillon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200985"},{"name":"Phalène (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201015"}],"characterised":true,"characterised_year":2013,"clinical_features":"As reported by Ahonen et al. (2013) \"Papillon breed is affected with an autosomal recessive late onset PRA with a mean onset at 5.6 years of age [Hakanson and Narfstrom, 1995]. ... affected dogs have a primary loss of the rod photoreceptor cells, followed by loss of cone cell function [Narfstrom and Ekesten, 1998], [Narfstrom and Wrigstad,1999]. The first clinical signs are seen as difficulties in the dim light. The disease progress very slowly and the affected dogs seem to be visually normal throughout their life, as the cone function is fairly well preserved [Narfstrom and Ekesten, 1998], [Narfstrom and Wrigstad,1999]. The ophthalmoscopical signs include increased tapetal reflectivity and retinal vascular attenuation followed by pigment migration in the non-tapetal fundus [Hakanson and Narfstrom, 1995].\"","defect":true,"group_name":"Retinal atrophy, progressive, CNGB1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Winkler et al. (2013) reported pedigree analysis results consistent with autosomal recessive inheritance in the Papillon breed.","mondo_terms":[],"name":"","omia_group_id":2723,"omia_phene_id":5429,"omia_record_id":"OMIA:002723-9615","publication_ids":[114805,114806,114807,114901,119333,124662,129719,129732,130075],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5429","source_release":"retrieved-2026-09-12","summary":"Information presented here was initially listed under 'OMIA:000830-9615 : Retinal atrophy, progressive'. The CNGB1-related entry was created to distinguish this retinal atrophy from other variants for which the underlying genetic cause is unknown [16/06/2023]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2023,"clinical_features":"","defect":true,"group_name":"Polyneuropathy, hypomyelinating, MTMR2-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011066","iri":"http://purl.obolibrary.org/obo/MONDO_0011066","label":"Charcot-Marie-Tooth disease type 4B1"}],"name":"congenital hypomyelinating polyneuropathy; HPN","omia_group_id":2727,"omia_phene_id":5455,"omia_record_id":"OMIA:002727-9615","publication_ids":[125483,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5455","source_release":"retrieved-2026-09-12","summary":"Cook et al. (2023): “Congenital hypomyelinating polyneuropathy (HPN) restricted to the peripheral nervous system was reported in 1989 in two Golden Retriever (GR) littermates [see <a href=\"https://omia.org/OMIA001292/9615/\">OMIA:001292-9615</a> : Polyneuropathy, generic in Canis lupus familiaris]. Recently, four additional cases of congenital HPN in young, unrelated GRs were diagnosed via neurological examination, electrodiagnostic evaluation, and peripheral nerve pathology.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Saarloos Wolfhond (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201158"}],"characterised":true,"characterised_year":2024,"clinical_features":"\"Clinical signs involved early adult onset retinal degeneration and adult-onset neurological deficits including gait abnormalities, hind limb weakness, tremors, ataxia, cognitive decline and behavioral changes such as aggression towards the owner.\" (Christen et al., 2024)\r\nThe first noticable clinical signs in the affected dogs involved a progressive loss of vision. Affected dogs developed prcd-PRA that let to blindness in older dogs. In six affected dogs of the study, the PRA diagnosis was made between 20 and 46 months of age (av 36 m, SD: 17 m) (Christen et al., 2024).\r\nSubsequent to the visual decline \"The eleven affected dogs additionally exhibited a range of neurological and neuromuscular signs, including gait abnormalities, hind limb weakness, tremors, ataxia, cognitive decline and behavioral changes such as aggression towards the owner. ...  Additionally, epileptic seizures were reported in cases 5, 6, 8, and 11. MRI was reportedly done at four years of age in cases 7, 9 and 10. The MRIs of cases 7 and 10 showed brain atrophy compatible with neurodegenerative disease. Notably, MRI findings in case 9 were normal even though it was performed after the onset of neurological signs.\" (Christen et al. 2024)","defect":true,"group_name":"PCYT2 deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Progressive retinal, central, and peripheral neurodegeneration","omia_group_id":2728,"omia_phene_id":5457,"omia_record_id":"OMIA:002728-9615","publication_ids":[126837],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5457","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Papillon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200985"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thoracoabdominal syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2729,"omia_phene_id":5459,"omia_record_id":"OMIA:002729-9615","publication_ids":[125380],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5459","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200258"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pulmonary valve dysplasia","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2730,"omia_phene_id":5460,"omia_record_id":"OMIA:002730-9615","publication_ids":[125382,125383,125388],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5460","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chromosomal abnormality, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2657,"omia_phene_id":5463,"omia_record_id":"OMIA:002657-9615","publication_ids":[6830,10806,13944,25374,125399,130676,131236,131517,131518,131519,131520,131521,131522,131928,131929,131930],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5463","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cancer, TP53-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1990,"omia_phene_id":5474,"omia_record_id":"OMIA:001990-9615","publication_ids":[125440],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5474","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2023,"clinical_features":"","defect":true,"group_name":"Polyneuropathy, hypomyelinating, MPZ-related","inheritance":null,"inheritance_text":"Probably autosomal dominant","mondo_terms":[],"name":"congenital hypomyelinating polyneuropathy; HPN","omia_group_id":2739,"omia_phene_id":5484,"omia_record_id":"OMIA:002739-9615","publication_ids":[125483,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5484","source_release":"retrieved-2026-09-12","summary":"Cook et al. (2023): “Congenital hypomyelinating polyneuropathy (HPN) restricted to the peripheral nervous system was reported in 1989 in two Golden Retriever (GR) littermates [see OMIA:001292-9615 : Polyneuropathy, generic in Canis lupus familiaris]. Recently, four additional cases of congenital HPN in young, unrelated GRs were diagnosed via neurological examination, electrodiagnostic evaluation, and peripheral nerve pathology.”","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2023,"clinical_features":"","defect":true,"group_name":"Polyneuropathy, hypomyelinating, SH3TC2-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"congenital hypomyelinating polyneuropathy; HPN","omia_group_id":2740,"omia_phene_id":5485,"omia_record_id":"OMIA:002740-9615","publication_ids":[125483,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5485","source_release":"retrieved-2026-09-12","summary":"Cook et al. (2023): “Congenital hypomyelinating polyneuropathy (HPN) restricted to the peripheral nervous system was reported in 1989 in two Golden Retriever (GR) littermates [see OMIA:001292-9615 : Polyneuropathy, generic in Canis lupus familiaris]. Recently, four additional cases of congenital HPN in young, unrelated GRs were diagnosed via neurological examination, electrodiagnostic evaluation, and peripheral nerve pathology.”","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pelvic organ prolapse, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Vaginal hyperplasia","omia_group_id":2581,"omia_phene_id":5505,"omia_record_id":"OMIA:002581-9615","publication_ids":[125583],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5505","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"}],"characterised":true,"characterised_year":2015,"clinical_features":"Ware et al. (2015): \"A 5-year-old, healthy English Springer Spaniel died suddenly 4 months after delivering a litter of 7 puppies. Within 4 months of the dam's death, 3 offspring also died suddenly. ... Three of 4 littermates examined ... had prolonged QT intervals with unique T-wave morphology.\"","defect":true,"group_name":"Long QT syndrome, KCNQ1-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"The condition is reported in a single family and the authors suspected that the  identified KCNQ1 variant arose de novo in the dam of the affected litter. Animals which were heterozygous for the variant presented with clinical signs (Ware et al. 2015).","mondo_terms":[{"id":"MONDO:0100316","iri":"http://purl.obolibrary.org/obo/MONDO_0100316","label":"long QT syndrome 1"}],"name":"","omia_group_id":2332,"omia_phene_id":5516,"omia_record_id":"OMIA:002332-9615","publication_ids":[125623,125626],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5516","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2016,"clinical_features":"The derived allele at MC5R (237-Thr) is associated with reduced hair shedding and shorter hair length. However, epistatic interactions with the genotypes at MC5R, RSPO2 and FGF5 exist (Hayward et al. 2016).","defect":false,"group_name":"Reduced hair shedding, MC5R-related","inheritance":null,"inheritance_text":"The exact mode of inheritance for hair shedding has not been published. Hayward et al. (2016) documented epistatic interactions of MC5R with FGF5 and RSPO2, which also affect hair morphology in dogs.","mondo_terms":[],"name":"","omia_group_id":2750,"omia_phene_id":5526,"omia_record_id":"OMIA:002750-9615","publication_ids":[116374,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5526","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"External auditory canal atresia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2751,"omia_phene_id":5531,"omia_record_id":"OMIA:002751-9615","publication_ids":[125648],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5531","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Phelan-McDermid syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"SHANK3-associated autism spectrum disorder","omia_group_id":2402,"omia_phene_id":5532,"omia_record_id":"OMIA:002402-9615","publication_ids":[125649,126086,126089,126874,128332,128368,129453,129457,129564,129588],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5532","source_release":"retrieved-2026-09-12","summary":"This phene includes references to studies involving gene edited or genetically modified organisms (GMO).","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lymphoma, B-cell, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2586,"omia_phene_id":5546,"omia_record_id":"OMIA:002586-9615","publication_ids":[125712,125856,125940,128228,128387,128393,129230,129787,130474,130583,130656,133109,133249],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5546","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"}],"characterised":true,"characterised_year":2023,"clinical_features":"Christen et al. (2023) \"investigated a [Belgian shepherd] litter in which two puppies developed cerebellar ataxia. The clinical signs stabilized at around six weeks of age, but remained visible into adulthood. ...  Genotyping additional ataxic Belgian shepherd dogs revealed three additional homozygous mutant dogs from a single litter, which had been euthanized at five weeks of age due to their severe clinical phenotype.\"","defect":true,"group_name":"Ataxia, cerebellar, RALGAPA1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2757,"omia_phene_id":5551,"omia_record_id":"OMIA:002757-9615","publication_ids":[125726,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5551","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200090"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Lhasa Apso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200824"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Wire Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201424"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lissencephaly, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2771,"omia_phene_id":5594,"omia_record_id":"OMIA:002771-9615","publication_ids":[268,9462,115188,115189,116288,125883,125884,127688],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5594","source_release":"retrieved-2026-09-12","summary":"See also <a href=\"https://omia.org/OMIA001867/9615/\">OMIA:001867-9615</a> : Lissencephaly and cerebellar hypoplasia, RELN-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Cyclic guanosine monophosphate (cGMP) concentration, reduced","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2774,"omia_phene_id":5604,"omia_record_id":"OMIA:002774-9615","publication_ids":[125914,125915],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5604","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":true,"characterised_year":2009,"clinical_features":"Homozygous affected males have normal male external genitalia, except that approximately 50% are unilaterally or bilaterally cryptorchid. PMDS males having at least one descended testicle can be fertile. Carrier males and carrier females are reproductively normal. PMDS dogs may present at any age as a dog with normal male external genitalia or a cryptorchid dog. If cryptorchid, they may present as an adult with signs of testicular tumor. As pyometra can be a sequelae, affected dogs may present with typical signs,such as polydipsia, polyuria and inappetance.","defect":true,"group_name":"Persistent Mullerian duct syndrome, AMHR2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"The mode of inheritance is sex-limited autosomal recessive, and both affected and carrier dogs are karyotypically normal [Wu et al., 2009]. Affected males are homozygous and will pass the mutation to all of their offspring. Carrier (heterozygous) males will pass the mutation to half their offspring, on average. Females are not affected, but can be either homozygous or heterozygous for the mutation. Homozygous carrier females will pass the mutation to all of their offspring and heterozygous carrier females will pass the mutation to half their offspring, on average.","mondo_terms":[],"name":"Persistent Müllerian Duct Syndrome","omia_group_id":2775,"omia_phene_id":5607,"omia_record_id":"OMIA:002775-9615","publication_ids":[629,108444,109206,109393,109483,111593,111594,111595,119913,119914,122155,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5607","source_release":"retrieved-2026-09-12","summary":"Information relating to persistent Mullerian duct syndrome due to variants in the AMRH2 gene were previously listed under <a href=\"https://omia.org/OMIA000791/9615/\">OMIA:000791-9615</a> : Persistent Mullerian duct syndrome in Canis lupus familiaris. PMDS is a type of XY disorder of sexual development (XY DSD), characterized by the presence of Müllerian duct derivatives in otherwise normal males. The mode of inheritance for the PMDS trait in miniature schnauzers is sex-limited autosomal recessive. Affected dogs are 78,XY and have bilateral testes. Both affected and carrier males appear externally normal, although approximately 50% of affected dogs are unilaterally or bilaterally cryptorchid. Common sequelae are Sertoli cell tumors in cryptorchid PMDS males and pyometra. Treatment in affected dogs is gonadectomy and hysterectomy. Testing for the mutation prior to breeding is recommended, because affected dogs with scrotal testes are fertile and carriers have no clinical signs. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT, updated by Imke Tammen [28/09/2023]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"}],"characterised":true,"characterised_year":2019,"clinical_features":"","defect":true,"group_name":"XY difference of sexual development, HSD17B3-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009916","iri":"http://purl.obolibrary.org/obo/MONDO_0009916","label":"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"}],"name":"","omia_group_id":2777,"omia_phene_id":5610,"omia_record_id":"OMIA:002777-9615","publication_ids":[119912],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5610","source_release":"retrieved-2026-09-12","summary":"Information about this condition was previously included under OMIA:001601-9615 : XY differences of sexual development, generic in Canis lupus familiaris [28/09/2023]","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sex chromosome difference of sexual development, generic","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0017975","iri":"http://purl.obolibrary.org/obo/MONDO_0017975","label":"sex chromosome disorder of sex development"}],"name":"","omia_group_id":2776,"omia_phene_id":5630,"omia_record_id":"OMIA:002776-9615","publication_ids":[108361,125934,128563],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5630","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"}],"characterised":true,"characterised_year":2023,"clinical_features":"Ekenstedt et al. (2023) report disease in Great Pyrenees dogs characterised by \"central nervous system degeneration leading to progressive cerebellar ataxia and spasticity, combined with peripheral neuropathy. Onset of clinical signs occurred in puppies as young as 4 months of age, with slow progression over several years.\"","defect":true,"group_name":"Ataxia, spastic, SACS-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010041","iri":"http://purl.obolibrary.org/obo/MONDO_0010041","label":"Charlevoix-Saguenay spastic ataxia"}],"name":"","omia_group_id":2780,"omia_phene_id":5640,"omia_record_id":"OMIA:002780-9615","publication_ids":[125964],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5640","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"}],"characterised":true,"characterised_year":2023,"clinical_features":"Bullock et al. (2023): A \"7-month-old Doberman Pinscher dog presented with progressive neurological signs and brain atrophy suggestive of a hereditary neurodegenerative disorder. The dog was euthanized due to the progression of disease signs.\"","defect":true,"group_name":"Mannosidosis, alpha","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009561","iri":"http://purl.obolibrary.org/obo/MONDO_0009561","label":"alpha-mannosidosis"}],"name":"","omia_group_id":625,"omia_phene_id":5641,"omia_record_id":"OMIA:000625-9615","publication_ids":[125965,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5641","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Colonic agenesis, congenital partial","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2781,"omia_phene_id":5644,"omia_record_id":"OMIA:002781-9615","publication_ids":[125973,125975],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5644","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Adaptation, environment, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2637,"omia_phene_id":5647,"omia_record_id":"OMIA:002637-9615","publication_ids":[125979,126001],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5647","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cholelithiasis, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2782,"omia_phene_id":5650,"omia_record_id":"OMIA:002782-9615","publication_ids":[125986,125987,125988,125989,125990],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5650","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Uveodermatological syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Vogt-Koyanagi-Harada (VKH)-like syndrome","omia_group_id":2787,"omia_phene_id":5674,"omia_record_id":"OMIA:002787-9615","publication_ids":[122150,126092,126093,126094,126095,126096,126097,126098,129209,129912,130494],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5674","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Vena cava defect, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2791,"omia_phene_id":5687,"omia_record_id":"OMIA:002791-9615","publication_ids":[126143,128420],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5687","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dentinogenesis imperfecta","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2792,"omia_phene_id":5688,"omia_record_id":"OMIA:002792-9615","publication_ids":[126146,126147,128877],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5688","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Irish Wolfhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200706"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myelopathy, fibrocartilaginous embolic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"fibrocartilaginous embolism, FCE","omia_group_id":1120,"omia_phene_id":5694,"omia_record_id":"OMIA:001120-9615","publication_ids":[126200,126201,126202,126203,126204,126205,126206,126207,126208,126209,126210,126211],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5694","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"}],"characterised":true,"characterised_year":2023,"clinical_features":"Bannasch et al. (2023): \"Two 10-month-old sibling Nova Scotia Duck Tolling Retrievers (NSDTR) died acutely with evidence of dilated cardiomyopathy with myocardial fibrosis.\" Abnormal Rhythm and dilated cardiomyopathy preceded sudden death in two cases. Three other cases presented with sudden death. When available necropsy of four cases showed severe myocardial fibrosis in dogs. All dogs homozygous for the mutant allele exhibited sudden death by 14 months of age. One related heterozygote had sudden death at 5 years of age.","defect":true,"group_name":"Cardiomyopathy, dilated, LMNA-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"Bannasch et al. (2023): \"Pedigree analysis in the NSDTR [Nova Scotia Duck Tolling retriever] and functional evaluation of heterozygotes is consistent with a predominantly recessive mode of inheritance and possibly low penetrance in heterozygotes.\"","mondo_terms":[{"id":"MONDO:0007269","iri":"http://purl.obolibrary.org/obo/MONDO_0007269","label":"dilated cardiomyopathy 1A"}],"name":"","omia_group_id":2796,"omia_phene_id":5703,"omia_record_id":"OMIA:002796-9615","publication_ids":[125624,126243],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5703","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polyendocrine syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2797,"omia_phene_id":5718,"omia_record_id":"OMIA:002797-9615","publication_ids":[126308],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5718","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Dog allergen","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2799,"omia_phene_id":5725,"omia_record_id":"OMIA:002799-9615","publication_ids":[126333,128170,128176,128562,130451,133417],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5725","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Complex vertebral malformation","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1340,"omia_phene_id":5760,"omia_record_id":"OMIA:001340-9615","publication_ids":[126498,127072,127232],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5760","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Anencephaly/Exencephaly","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":44,"omia_phene_id":5770,"omia_record_id":"OMIA:000044-9615","publication_ids":[126570,126571,126572,126573,126574,126575,127232,130134],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5770","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Amelia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":587,"omia_phene_id":5776,"omia_record_id":"OMIA:000587-9615","publication_ids":[126573,127232,129479],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5776","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Trichiasis, caruncular","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"aberrant dermis","omia_group_id":2809,"omia_phene_id":5780,"omia_record_id":"OMIA:002809-9615","publication_ids":[126600,126601,126602],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5780","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"}],"characterised":true,"characterised_year":2023,"clinical_features":"Stanbury et al. (2023) \"Affected dogs typically present with multiple and various ocular abnormalities.\" These may include cataract, bilateral vitreal degeneration, macrophthalmos, spherophakia, retinal detachment, uveitis and secondary glaucoma.","defect":true,"group_name":"Multiple ocular defects, COL11A1-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011493","iri":"http://purl.obolibrary.org/obo/MONDO_0011493","label":"Stickler syndrome type 2"}],"name":"Multiocular defect","omia_group_id":2811,"omia_phene_id":5788,"omia_record_id":"OMIA:002811-9615","publication_ids":[126675],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5788","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Woolly hair","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1256,"omia_phene_id":5793,"omia_record_id":"OMIA:001256-9615","publication_ids":[126694],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5793","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":2014,"clinical_features":"","defect":true,"group_name":"Alzheimer disease, APP-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0007088","iri":"http://purl.obolibrary.org/obo/MONDO_0007088","label":"Alzheimer disease type 1"}],"name":"","omia_group_id":2538,"omia_phene_id":5796,"omia_record_id":"OMIA:002538-9615","publication_ids":[126721,126722],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5796","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Eurasier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200512"}],"characterised":true,"characterised_year":2023,"clinical_features":"Rawson et al. (2024): \"Three Eurasier dogs (littermates) presented with early onset movement disorders (9 weeks in 2, 4-6 months in 1). Progressive gait abnormalities were detected in 2 of the dogs, persistent divergent strabismus in 1, whereas consciousness and behavior remained intact in all dogs. One dog was euthanized at 25 months. ... Magnetic resonance imaging of the brain in Dogs 1 and 2 identified symmetrical, bilateral T2 and fluid attenuated inversion recovery hyperintense, T1 hypo to isointense, nonenhancing lesions of the caudate nucleus, lateral and medial geniculate nuclei, thalamus, hippocampus, rostral colliculus and mild generalized brain atrophy.\"","defect":true,"group_name":"Polioencephalopathy, MECR-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2814,"omia_phene_id":5797,"omia_record_id":"OMIA:002814-9615","publication_ids":[126723],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5797","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Mastocytosis, cutaneous","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2816,"omia_phene_id":5808,"omia_record_id":"OMIA:002816-9615","publication_ids":[126768],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5808","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Uterine aplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2822,"omia_phene_id":5828,"omia_record_id":"OMIA:002822-9615","publication_ids":[122354],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5828","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dental abnormalities","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2583,"omia_phene_id":5841,"omia_record_id":"OMIA:002583-9615","publication_ids":[126888,129691,129692],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5841","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Papillomatosis, cutaneous","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1147,"omia_phene_id":5874,"omia_record_id":"OMIA:001147-9615","publication_ids":[127070,129266],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5874","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"}],"characterised":true,"characterised_year":2024,"clinical_features":"","defect":true,"group_name":"Immunodeficiency, CARMIL2-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2835,"omia_phene_id":5896,"omia_record_id":"OMIA:002835-9615","publication_ids":[127214],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5896","source_release":"retrieved-2026-09-12","summary":"Coffey et al. (2024) \"report the discovery of a <em>CARMIL2</em> nonsense variant in three Cavalier King Charles Spaniel dogs with either PCP [<em>Pneumocystis</em> pneumonia] (n = 2) or refractory&nbsp;<em>Bordetella</em> pneumonia (n = 1). ...&nbsp;Deleterious <em>CARMIL2</em> variants have recently been reported in human patients with PCP and other recurrent pneumonias. In addition to opportunistic respiratory infection, the affected dogs also exhibited other clinical manifestations of CARMIL2 deficiencies that have been reported in humans, including early-onset gastrointestinal disease, allergic skin disease, mucocutaneous lesions, abscesses, autoimmune disorders, and gastrointestinal parasitism.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Omphalocele","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":741,"omia_phene_id":5901,"omia_record_id":"OMIA:000741-9615","publication_ids":[127232],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5901","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Atresia ani","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":83,"omia_phene_id":5902,"omia_record_id":"OMIA:000083-9615","publication_ids":[127232],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5902","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cirneco dell'Etna (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200365"}],"characterised":true,"characterised_year":2024,"clinical_features":"Murgiano et al. (2024) reported two Cirneco dell′ Etna dogs from the same litter with retinal degeneration, along with tremors, gait alteration and signs described as either atypical seizures or paroxysmal dyskinesias. <br>\"Analysis of the brain MRI ... showed a discrete area of bilaterally symmetric, peri-ventricular T2 hyperintensity ... . This signal abnormality extended towards the internal capsule, where it was accompanied by increased T2 signal within the caudate nuclei bilaterally (right greater than left). There was also moderate ventriculomegaly involving the lateral ventricles. This appeared to result from diffuse thinning of cerebral white matter, most notable in the ventral temporal lobe. The results of the CSF analysis were within normal ranges... . The MRI of the cervical spine did not reveal any abnormalities.\"","defect":true,"group_name":"Pontocerebellar hypoplasia, AMPD2-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014351","iri":"http://purl.obolibrary.org/obo/MONDO_0014351","label":"pontocerebellar hypoplasia type 9"}],"name":"Cirneco oculo-neurological syndrome","omia_group_id":2838,"omia_phene_id":5906,"omia_record_id":"OMIA:002838-9615","publication_ids":[127246],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5906","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Muscle hypertrophy, dysphagia, and gait abnormalities","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2839,"omia_phene_id":5907,"omia_record_id":"OMIA:002839-9615","publication_ids":[127249],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5907","source_release":"retrieved-2026-09-12","summary":"Shelton et al. (2024) describe 4 French Bulldogs with muscle hypertrophy, swallowing disorders, and gait abnormalities. Two of the dogs had a likely causal variant in the CLCN1 gene (see <a href=\"../../../../OMIA000698/9615/\">OMIA:000698-9615</a> : Myotonia in Canis lupus familiaris for details). Whole genome sequencing in one dog identified a variant in \"<em>PDE4C&nbsp;</em>[c15dup; XP_038422764.1:p.A6Rfs*46], which is the major phosphodiesterase expressed in skeletal muscle and may play a role in decreasing muscle atrophy. In one case for which whole genome sequencing was not performed, genotyping for the identified variants was not confirmed.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2024,"clinical_features":"Christen et al. (2024): \"Two Jack-Russell Terrier × Chihuahua mixed-breed littermates with Leigh syndrome were investigated. The dogs presented with progressive ataxia, dystonia, and increased lactate levels.\" Disease onset was at ~4 months of age and the two dogs were euthanized at ~6 months of age due to the severity of their clinical phenotype.","defect":true,"group_name":"Leigh syndrome, NDUFS7-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2840,"omia_phene_id":5908,"omia_record_id":"OMIA:002840-9615","publication_ids":[127250],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5908","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Vertebral anomalies","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1046,"omia_phene_id":5916,"omia_record_id":"OMIA:001046-9615","publication_ids":[127287,127577,127715,128475],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5916","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200090"},{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Cavapoo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200316"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Italian Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200713"},{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Wirehaired Pointing Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201427"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Steroid-responsive meningitis-arteritis, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2842,"omia_phene_id":5917,"omia_record_id":"OMIA:002842-9615","publication_ids":[109174,109193,116817,127299,127304,127305,127306,127307,127308,127309,127310,127311,127730,128045,128343,128344,128504,128620,132597,133067],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5917","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tuberculosis, susceptibility/resistance to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1856,"omia_phene_id":5921,"omia_record_id":"OMIA:001856-9615","publication_ids":[127332],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5921","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Vaccine-induced immune response, variation in","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2844,"omia_phene_id":5922,"omia_record_id":"OMIA:002844-9615","publication_ids":[127350],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5922","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"}],"characterised":true,"characterised_year":2024,"clinical_features":"Murgiano et al. (2024) report a syndromic disorder characterized by microphthalmia, tooth enamel malformations, stunted growth, anemia, and thrombocytopenia in the Portuguese water dog.","defect":true,"group_name":"Microphthalmia with haematopoietic defects, DNAJC21-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Canine congenital microphthalmos with hematopoietic defects","omia_group_id":2847,"omia_phene_id":5932,"omia_record_id":"OMIA:002847-9615","publication_ids":[127425],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5932","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Nasolacrimal duct obstruction","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2852,"omia_phene_id":5947,"omia_record_id":"OMIA:002852-9615","publication_ids":[127464],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5947","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":true,"characterised_year":2024,"clinical_features":"","defect":true,"group_name":"Immunodeficiency, CARD9-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Mizukami et al. (2024): \"Adult Miniature Schnauzers developing progressive systemic MAC infections were related to a common founder, and pedigree analysis was consistent with an autosomal recessive trait.\"","mondo_terms":[],"name":"Increased susceptibility to Mycobacterium avium complex infection","omia_group_id":2854,"omia_phene_id":5953,"omia_record_id":"OMIA:002854-9615","publication_ids":[127485],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5953","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Afghan Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200004"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myelopathy, hereditary","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"hereditary necrotizing myelopathy; myelomalacia","omia_group_id":2857,"omia_phene_id":5971,"omia_record_id":"OMIA:002857-9615","publication_ids":[7599,8501,120052,127593],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5971","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glucose-6-phosphate dehydrogenase deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":416,"omia_phene_id":5972,"omia_record_id":"OMIA:000416-9615","publication_ids":[127595],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5972","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Methaemoglobinaemia, CYB5A-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2858,"omia_phene_id":5973,"omia_record_id":"OMIA:002858-9615","publication_ids":[127598],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5973","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Osteochondromatosis, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2555,"omia_phene_id":6004,"omia_record_id":"OMIA:002555-9615","publication_ids":[127723],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6004","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Labrador Retriever (obsolete)","vbo_id":null}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Wolff-Parkinson-White syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008685","iri":"http://purl.obolibrary.org/obo/MONDO_0008685","label":"Wolff-Parkinson-White syndrome"}],"name":"","omia_group_id":1194,"omia_phene_id":6024,"omia_record_id":"OMIA:001194-9615","publication_ids":[127905],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6024","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pheochromocytoma","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1268,"omia_phene_id":6038,"omia_record_id":"OMIA:001268-9615","publication_ids":[127985],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6038","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"}],"characterised":true,"characterised_year":2024,"clinical_features":"Kiener et al. (2024) \"investigated a miniature poodle with early onset generalized scaling, dry and irregularly thickened skin, paw pad hyperkeratosis and abnormalities in hair and teeth.\"&nbsp;","defect":true,"group_name":"Ichthyosis, DSP-related","inheritance":{"code":"UD","name":"Dominant"},"inheritance_text":"","mondo_terms":[],"name":"Ichthyosis, syndromic","omia_group_id":2243,"omia_phene_id":6050,"omia_record_id":"OMIA:002243-9615","publication_ids":[128053],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6050","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0000668","iri":"http://purl.obolibrary.org/obo/HP_0000668","label":"hypodontia"},{"id":"HP:0000704","iri":"http://purl.obolibrary.org/obo/HP_0000704","label":"periodontitis"},{"id":"HP:0004528","iri":"http://purl.obolibrary.org/obo/HP_0004528","label":"generalize hypotrichosis"},{"id":"HP:0025080","iri":"http://purl.obolibrary.org/obo/HP_0025080","label":"Orthokeratotic hyperkeratosis"},{"id":"HP:0030804","iri":"http://purl.obolibrary.org/obo/HP_0030804","label":"trachyonychia"},{"id":"MP:0000414","iri":"http://purl.obolibrary.org/obo/MP_0000414","label":"alopecia"},{"id":"MP:0000416","iri":"http://purl.obolibrary.org/obo/MP_0000416","label":"sparse hair"},{"id":"MP:0000580","iri":"http://purl.obolibrary.org/obo/MP_0000580","label":"deform nail"},{"id":"MP:0001222","iri":"http://purl.obolibrary.org/obo/MP_0001222","label":"epidermal hyperplasia"},{"id":"MP:0001510","iri":"http://purl.obolibrary.org/obo/MP_0001510","label":"abnormal coat appearance"},{"id":"MP:0009675","iri":"http://purl.obolibrary.org/obo/MP_0009675","label":"orthokeratosis"},{"id":"MP:0009792","iri":"http://purl.obolibrary.org/obo/MP_0009792","label":"seborrheic dermatitis"},{"id":"MP:0013466","iri":"http://purl.obolibrary.org/obo/MP_0013466","label":"keratoconjunctivitis sicca"},{"id":"MP:0030608","iri":"http://purl.obolibrary.org/obo/MP_0030608","label":"decrease tooth number"}]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Encephalopathy, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2867,"omia_phene_id":6052,"omia_record_id":"OMIA:002867-9615","publication_ids":[128059,129816],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6052","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"}],"characterised":false,"characterised_year":null,"clinical_features":"Nessler et al. (2020): \"Four female Shetland Sheepdogs (age 2–6 years) were presented due to progressive dyskinetic episodes. ... The episodes were characterized by generalized ataxia with hypermetria and muscular hypertonia of all limbs, dystonia, normal to mildly reduced mentation, and a mild tremor. In the more severe episodes, the dogs were no longer ambulatory. ... The episodes varied from minutes to hours and could start while at rest, or during activity. In case 4, they were triggered by excitement or stress ... . In cases 1–3, hot weather seemed to aggravate the clinical signs. ... Laboratory diagnostic findings included mild lactic acidosis and lactaturia, mild intermittent serum creatine kinase (CK) elevation and hypoglycemia. Electrophysiological tests and magnetic resonance imaging of the brain were unremarkable.\"","defect":true,"group_name":"Dyskinesia, paroxysmal, PCK2-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"paroxysmal exercise-induced dyskinesia","omia_group_id":2868,"omia_phene_id":6054,"omia_record_id":"OMIA:002868-9615","publication_ids":[128068,128069],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6054","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Dachshund, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200408"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myelodysplastic syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0018881","iri":"http://purl.obolibrary.org/obo/MONDO_0018881","label":"myelodysplastic syndrome"}],"name":"","omia_group_id":2870,"omia_phene_id":6059,"omia_record_id":"OMIA:002870-9615","publication_ids":[121060,128093,128094,128095,128096,128099,128100,128101,128102,128103,128374],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6059","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Miniature American Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200880"}],"characterised":true,"characterised_year":2024,"clinical_features":"Cook et al. (2024) reported that affected Miniature American Shepherd \"dogs were typically young adults ... [displaying] varying degrees of hind limb weakness and ataxia, together with scuffing of the nails/dragging of digits. Kyphosis and a pacing/ambling gait were commonly reported. A cerebellar gait was also noted in several dogs. A few dogs had a reported change in behavior. Seizures were only reported in one dog ... .&nbsp;Overall, in the present cohort of MAS dogs from a wide international genetic pool, the onset of clinical signs was typically around the second year of life, although this varied somewhat between dogs; this variability, to an extent, depended on the astuteness of the owner's observations. Slowly progressive T3-L3 myelopathy signs were observed as the most common clinical presentation, with possible cervical, cerebellar, or forebrain signs also developing. Neither pain nor vestibular signs were reported in affected dogs. Gait abnormalities were always more obvious during the walk compared to faster gaits.\" The disease has a very slow progression and affected dogs may reach more than ten years of age.&nbsp;","defect":true,"group_name":"Neuroaxonal dystrophy, RNF170-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0030512","iri":"http://purl.obolibrary.org/obo/MONDO_0030512","label":"spastic paraplegia 85, autosomal recessive"}],"name":"","omia_group_id":2876,"omia_phene_id":6067,"omia_record_id":"OMIA:002876-9615","publication_ids":[128134,128789],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6067","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0003690","iri":"http://purl.obolibrary.org/obo/HP_0003690","label":"limb muscle weakness"},{"id":"MP:0000160","iri":"http://purl.obolibrary.org/obo/MP_0000160","label":"kyphosis"},{"id":"MP:0001393","iri":"http://purl.obolibrary.org/obo/MP_0001393","label":"ataxia"},{"id":"MP:0001406","iri":"http://purl.obolibrary.org/obo/MP_0001406","label":"abnormal gait"},{"id":"MP:0002064","iri":"http://purl.obolibrary.org/obo/MP_0002064","label":"seizure"},{"id":"MP:0002183","iri":"http://purl.obolibrary.org/obo/MP_0002183","label":"gliosis"},{"id":"MP:0004924","iri":"http://purl.obolibrary.org/obo/MP_0004924","label":"abnormal behavior"},{"id":"MP:0010047","iri":"http://purl.obolibrary.org/obo/MP_0010047","label":"axonal spheroid"},{"id":"MP:0011730","iri":"http://purl.obolibrary.org/obo/MP_0011730","label":"increase myelin sheath thickness"},{"id":"MP:0031204","iri":"http://purl.obolibrary.org/obo/MP_0031204","label":"hindlimb paresis"}]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pulmonary hypertension","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":841,"omia_phene_id":6073,"omia_record_id":"OMIA:000841-9615","publication_ids":[128155,130071],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6073","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Drug metabolism, altered","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2421,"omia_phene_id":6106,"omia_record_id":"OMIA:002421-9615","publication_ids":[128287,128288,128289,128295,128300,130363],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6106","source_release":"retrieved-2026-09-12","summary":"Martinez et al. (2024): \"Greyhounds metabolize cytochrome P450 (CYP) 2B11 substrates more slowly than other dog breeds.\"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ataxia, episodic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2909,"omia_phene_id":6208,"omia_record_id":"OMIA:002909-9615","publication_ids":[128900,128901],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6208","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sjogren syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010030","iri":"http://purl.obolibrary.org/obo/MONDO_0010030","label":"Sjogren syndrome"}],"name":"","omia_group_id":2910,"omia_phene_id":6209,"omia_record_id":"OMIA:002910-9615","publication_ids":[128903,128904,128905],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6209","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ocular squamous cell carcinoma","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":735,"omia_phene_id":6221,"omia_record_id":"OMIA:000735-9615","publication_ids":[128970],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6221","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cystic microphthalmia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":253,"omia_phene_id":6224,"omia_record_id":"OMIA:000253-9615","publication_ids":[128980],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6224","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemochromatosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":428,"omia_phene_id":6227,"omia_record_id":"OMIA:000428-9615","publication_ids":[128999,132598],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6227","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Lancashire Heeler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200808"}],"characterised":true,"characterised_year":2025,"clinical_features":"Hytönen et al. (2025): \"affected Lancashire Heeler dogs ... were originally identified by abnormal enamel in the permanent teeth, including severe yellow to brown discoloration, enamel hypoplasia and abrasion leading to exposure of dentin ... . The enamel defects were already apparent upon tooth eruption. ... Two out of three dogs had deformity detected in their front limbs, i.e. outward rotation of front limbs from the elbow joint. ... Abnormal electromyographic findings consistent with demyelinating neuropathy were detected in all three examined dogs and consisted of fibrillation potentials and positive sharp waves occurring predominantly in distal appendicular limb muscles ... . Fibrillation potentials were also detected in paraspinal musculature.\" Reduced motor nerve conduction velocities and decreased compound muscle action potential (CMAP) amplitudes and increased CMAP duration were observed in two out of three affected dogs.\"","defect":true,"group_name":"Charcot-Marie-Tooth disease, ITPR3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0859311","iri":"http://purl.obolibrary.org/obo/MONDO_0859311","label":"Charcot-Marie-Tooth disease, demyelinating, type 1J"}],"name":"Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta","omia_group_id":2916,"omia_phene_id":6236,"omia_record_id":"OMIA:002916-9615","publication_ids":[129099],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6236","source_release":"retrieved-2026-09-12","summary":"Hytönen et al. (2025) \"report the identification of a homozygous nonsense variant in the ITPR3 gene in Lancashire Heeler dogs, presenting with a severe developmental enamel defect and reduced nerve conduction velocity.\"&nbsp;","taxon_id":9615,"upheno_terms":[{"id":"HP:0003431","iri":"http://purl.obolibrary.org/obo/HP_0003431","label":"Decreased motor nerve conduction velocity"},{"id":"HP:0003457","iri":"http://purl.obolibrary.org/obo/HP_0003457","label":"EMG abnormality"},{"id":"HP:0009830","iri":"http://purl.obolibrary.org/obo/HP_0009830","label":"Peripheral neuropathy"},{"id":"HP:0033383","iri":"http://purl.obolibrary.org/obo/HP_0033383","label":"Decreased compound muscle action potential amplitude"},{"id":"MP:0000550","iri":"http://purl.obolibrary.org/obo/MP_0000550","label":"abnormal forelimb morphology"},{"id":"MP:0013129","iri":"http://purl.obolibrary.org/obo/MP_0013129","label":"abnormal tooth color"},{"id":"MP:0030544","iri":"http://purl.obolibrary.org/obo/MP_0030544","label":"abnormal enamel development"},{"id":"UPHENO:0081269","iri":"http://purl.obolibrary.org/obo/UPHENO_0081269","label":"enamel hypoplasia"}]}
{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2024,"clinical_features":"","defect":true,"group_name":"Hyperbiliverdinaemia","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013595","iri":"http://purl.obolibrary.org/obo/MONDO_0013595","label":"hyperbiliverdinemia"}],"name":"Biliverdinuria","omia_group_id":2917,"omia_phene_id":6238,"omia_record_id":"OMIA:002917-9615","publication_ids":[129132],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6238","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0032003","iri":"http://purl.obolibrary.org/obo/HP_0032003","label":"Green urine"},{"id":"HP:0032003","iri":"http://purl.obolibrary.org/obo/HP_0032003","label":"Green urine"},{"id":"MP:0000240","iri":"http://purl.obolibrary.org/obo/MP_0000240","label":"extramedullary hematopoiesis"},{"id":"MP:0000610","iri":"http://purl.obolibrary.org/obo/MP_0000610","label":"cholestasis"},{"id":"MP:0002768","iri":"http://purl.obolibrary.org/obo/MP_0002768","label":"small adrenal glands"},{"id":"MP:0002962","iri":"http://purl.obolibrary.org/obo/MP_0002962","label":"increased urine protein level"},{"id":"MP:0008389","iri":"http://purl.obolibrary.org/obo/MP_0008389","label":"hypochromic macrocytic anemia"},{"id":"MP:0011464","iri":"http://purl.obolibrary.org/obo/MP_0011464","label":"bilirubinuria"},{"id":"UPHENO:0080216","iri":"http://purl.obolibrary.org/obo/UPHENO_0080216","label":"urine color phenotype"},{"id":"UPHENO:0080216","iri":"http://purl.obolibrary.org/obo/UPHENO_0080216","label":"urine color phenotype"}]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Endometritis, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2568,"omia_phene_id":6240,"omia_record_id":"OMIA:002568-9615","publication_ids":[129137],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6240","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Belgian Shepherd Dog, Groenendael (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200145"},{"name":"Belgian Shepherd Dog, Tervueren (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200148"},{"name":"Chow Chow (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200361"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Carcinoma, gastric, predisposition to","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Hugen et al. (2025)&nbsp; estimated the heritability of gastric carcinoma (GC) in Tervueren and Groenendael Belgian Shepherds: \"The heritability of GC in the narrow sense was calculated as 0.53 with a standard error of 0.15.\"","mondo_terms":[],"name":"","omia_group_id":2919,"omia_phene_id":6244,"omia_record_id":"OMIA:002919-9615","publication_ids":[129146,129147,129148,129149,129150,129151,129152,129153,129154,129156],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6244","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Height, IGF2BP2-associated body-size variation","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2921,"omia_phene_id":6248,"omia_record_id":"OMIA:002921-9615","publication_ids":[108432,108601,119103,129174],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6248","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"}],"characterised":true,"characterised_year":2025,"clinical_features":"Oliver et al. (2024): \"Ophthalmic abnormalities observed in [Retinopathy with Vitamin E Deficiency]-affected [English Cocker Spaniel] include lipofuscin granule deposition within the tapetal fundus and subsequent retinal degeneration resulting in visual deficits. Affected dogs may also exhibit neurological signs that include ataxia and hindlimb proprioceptive deficit. In all cases, circulating plasma concentrations of alpha-tocopherol are low.\"","defect":true,"group_name":"Ataxia with isolated vitamin E deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010188","iri":"http://purl.obolibrary.org/obo/MONDO_0010188","label":"familial isolated deficiency of vitamin E"}],"name":"Retinopathy with Vitamin E deficiency; central progressive retinal atrophy; vitamin E deficiency retinopathy; retinal pigment epithelial dystrophy","omia_group_id":2922,"omia_phene_id":6249,"omia_record_id":"OMIA:002922-9615","publication_ids":[103363,129175,129176,129177,129178,129179,129180],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6249","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0000546","iri":"http://purl.obolibrary.org/obo/HP_0000546","label":"Retinal degeneration"},{"id":"HP:0100513","iri":"http://purl.obolibrary.org/obo/HP_0100513","label":"Decreased circulating vitamin E concentration"},{"id":"MP:0001393","iri":"http://purl.obolibrary.org/obo/MP_0001393","label":"ataxia"},{"id":"MP:0002090","iri":"http://purl.obolibrary.org/obo/MP_0002090","label":"abnormal vision"}]}
{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2025,"clinical_features":"Murgiano et al. (2025) report 3 affected Labrador retrievers from the same litter with progressive retinal atrophy with onset of clinical signs between 7 month and 1.5 years. \"Two of the dogs developed Addison’s disease .... ; one of these later developed diabetes mellitus and died from a hypoglycemic event.\"","defect":true,"group_name":"Retinal atrophy, progressive, GTPBP2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2926,"omia_phene_id":6271,"omia_record_id":"OMIA:002926-9615","publication_ids":[129302],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6271","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"MP:0002090","iri":"http://purl.obolibrary.org/obo/MP_0002090","label":"abnormal vision"},{"id":"UPHENO:0074003","iri":"http://purl.obolibrary.org/obo/UPHENO_0074003","label":"retina degeneration"}]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Heterotopic ossification","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2655,"omia_phene_id":6272,"omia_record_id":"OMIA:002655-9615","publication_ids":[129341],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6272","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Nephronophthisis","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0019005","iri":"http://purl.obolibrary.org/obo/MONDO_0019005","label":"nephronophthisis"}],"name":"","omia_group_id":2929,"omia_phene_id":6297,"omia_record_id":"OMIA:002929-9615","publication_ids":[129476],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6297","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"}],"characterised":false,"characterised_year":2025,"clinical_features":"Chevallier et al. (2025): \"All the [13 affected] the dogs ... were Chihuahua-like (n = 6) or mixed-breed Chihuahuas (n = 7) born with no forelimbs ... . They all had a scapula on both sides and presented a residual fragment of the humerus engaged in the glenoid cavity that varied in length ... . All of them were missing all bones distal to the humerus.\"","defect":true,"group_name":"Amelia, RSPO2-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0060732","iri":"http://purl.obolibrary.org/obo/MONDO_0060732","label":"tetraamelia syndrome 2"}],"name":"Bilateral anterior amelia (BAA)","omia_group_id":2297,"omia_phene_id":6299,"omia_record_id":"OMIA:002297-9615","publication_ids":[129477,129478],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6299","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0009818","iri":"http://purl.obolibrary.org/obo/HP_0009818","label":"Amelia involving the lower limbs"}]}
{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Schnauzer, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201189"}],"characterised":false,"characterised_year":null,"clinical_features":"Castillo and Williams (2021) report asymptomatic decrease in red blood cells with various morphological changes of the red blood cells (stomatocytes, knizocytes, mild anisocytosis, mild macrocytosis, and mild polychromasia) in a a Beagle and Australian Cattle Dog.","defect":true,"group_name":"Stomatocytosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2932,"omia_phene_id":6303,"omia_record_id":"OMIA:002932-9615","publication_ids":[129497,129498,129500,129501,129502],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6303","source_release":"retrieved-2026-09-12","summary":"see also <a href=\"../../../../../../OMIA001178/9615/\">OMIA:001178-9615</a> : Stomatocytosis and gastritis in Canis lupus familiaris (dog) and <a href=\"../../../../../../OMIA000300/9615/\">OMIA:000300-9615</a> : Dwarfism with anaemia in Canis lupus familiaris (dog) for other forms of stomatocytosis.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Aortic valve stenosis, generic","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0042981","iri":"http://purl.obolibrary.org/obo/MONDO_0042981","label":"aortic valve stenosis"}],"name":"","omia_group_id":2933,"omia_phene_id":6310,"omia_record_id":"OMIA:002933-9615","publication_ids":[110025,116136,120859,129520,129521,129644],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6310","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cataract, CPT1A-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2940,"omia_phene_id":6341,"omia_record_id":"OMIA:002940-9615","publication_ids":[129656],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6341","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":true,"characterised_year":2021,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, JPH2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2943,"omia_phene_id":6357,"omia_record_id":"OMIA:002943-9615","publication_ids":[121882,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6357","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neutrophilic dermatosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2954,"omia_phene_id":6378,"omia_record_id":"OMIA:002954-9615","publication_ids":[129754],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6378","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Schwannomatosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1963,"omia_phene_id":6414,"omia_record_id":"OMIA:001963-9615","publication_ids":[129849],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6414","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2025,"clinical_features":"Schwarz et al. (2025): \"Three of 11 puppies in a litter of Weimaraner dogs exhibited an abnormal gait characterized by synchronized saltatorial locomotion.\" ... \"The initial presentation included tetraparesis and ataxia on all four limbs with the pelvic limbs being more severely affected. Difficulty in rising on the pelvic limbs and stumbling on the thoracic limbs were observed. The pelvic limb gait showed a bunny-hopping appearance with synchronized saltatorial locomotion. Saltatorial gait was also present on the thoracic limbs. Behavior and mentation were normal and appeared similar between affected and unaffected dogs.\" The affected puppies from Schwarz et al. 2025 were euthanized at 8 weeks of age and further development of their gait abnormalities was not investigated.<br><em>Efnb3<sup>-/-</sup></em> knockout mice exhibit a similar abnormal gait phenotype characterized by bunny-hopping and saltatorial locomotion (Kullander et al. 2001; Yokoyama et a. 2001).","defect":true,"group_name":"Limb movement, synchronic, EFNB3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Congenital mirror movement disorder 1","omia_group_id":2353,"omia_phene_id":6432,"omia_record_id":"OMIA:002353-9615","publication_ids":[121732,129964,129979,129980,130495,130496,132200],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6432","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Welsh Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201411"}],"characterised":true,"characterised_year":2025,"clinical_features":"Kilpatrick et al. (2025) \"A 7-month-old female spayed English Springer Spaniel (ESS) was evaluated for spontaneous hemoperitoneum. Hyperfibrinolysis was identified on thromboelastography.&nbsp; .... &nbsp;Absence of PAI-1 in the proband's platelets was documented using LC–MS/MS.\"","defect":true,"group_name":"Plasminogen activator inhibitor-1 deficiency, SERPINE1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013227","iri":"http://purl.obolibrary.org/obo/MONDO_0013227","label":"congenital plasminogen activator inhibitor type 1 deficiency"}],"name":"Hyperfibrinolysis","omia_group_id":2967,"omia_phene_id":6446,"omia_record_id":"OMIA:002967-9615","publication_ids":[130077],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6446","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0001892","iri":"http://purl.obolibrary.org/obo/HP_0001892","label":"Abnormal bleeding"},{"id":"HP:0040236","iri":"http://purl.obolibrary.org/obo/HP_0040236","label":"Hyperfibrinolysis"},{"id":"MP:0001577","iri":"http://purl.obolibrary.org/obo/MP_0001577","label":"anemia"},{"id":"MP:0001914","iri":"http://purl.obolibrary.org/obo/MP_0001914","label":"hemorrhage"},{"id":"MP:0003422","iri":"http://purl.obolibrary.org/obo/MP_0003422","label":"abnormal thrombolysis"}]}
{"breeds":[{"name":"Schnauzer, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201189"},{"name":"Vizsla (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201389"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypothalamic hamartoma","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2969,"omia_phene_id":6455,"omia_record_id":"OMIA:002969-9615","publication_ids":[130168,130169],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6455","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"}],"characterised":true,"characterised_year":2017,"clinical_features":"","defect":false,"group_name":"GST-theta enzyme activity, GSTT1-like-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2971,"omia_phene_id":6458,"omia_record_id":"OMIA:002971-9615","publication_ids":[130236],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6458","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Corpus callosum hypoplasia / dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2866,"omia_phene_id":6470,"omia_record_id":"OMIA:002866-9615","publication_ids":[130317],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6470","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":true,"characterised_year":2025,"clinical_features":"","defect":false,"group_name":"Nose, bifid, PDGFRA-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2972,"omia_phene_id":6478,"omia_record_id":"OMIA:002972-9615","publication_ids":[130364],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6478","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Field Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200519"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cholesteryl ester storage disease","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0019149","iri":"http://purl.obolibrary.org/obo/MONDO_0019149","label":"cholesteryl ester storage disease"}],"name":"","omia_group_id":3006,"omia_phene_id":6531,"omia_record_id":"OMIA:003006-9615","publication_ids":[130651],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6531","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Aneuploidy, monosomy, sex chromosome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2979,"omia_phene_id":6542,"omia_record_id":"OMIA:002979-9615","publication_ids":[130099,130673,130676,130686,131369],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6542","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Aneuploidy, trisomy, sex chromosome XXX","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2980,"omia_phene_id":6545,"omia_record_id":"OMIA:002980-9615","publication_ids":[125934,130099,130673,130676],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6545","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"}],"characterised":true,"characterised_year":2025,"clinical_features":"Blake et al. (2025) \"report two young adult Basset Hound (BH) littermates presenting with congestive heart failure, pelvic limb weakness, gastro-intestinal upset, and sudden death.\"","defect":true,"group_name":"Polyglucosan body myopathy, RBCK1-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014389","iri":"http://purl.obolibrary.org/obo/MONDO_0014389","label":"polyglucosan body myopathy 1 with or without immunodeficiency"}],"name":"glycogen storage disease myopathy","omia_group_id":3010,"omia_phene_id":6566,"omia_record_id":"OMIA:003010-9615","publication_ids":[130716],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6566","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chromosomal structural anomaly, translocation, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2998,"omia_phene_id":6587,"omia_record_id":"OMIA:002998-9615","publication_ids":[1708,125934],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6587","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chromosomal structural anomaly, translocation, centric fusion","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2997,"omia_phene_id":6595,"omia_record_id":"OMIA:002997-9615","publication_ids":[24907,125934,131263],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6595","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Aneuploidy, trisomy, sex chromosome XXY","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0006823","iri":"http://purl.obolibrary.org/obo/MONDO_0006823","label":"Klinefelter syndrome"}],"name":"","omia_group_id":2982,"omia_phene_id":6609,"omia_record_id":"OMIA:002982-9615","publication_ids":[131219],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6609","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"}],"characterised":true,"characterised_year":2025,"clinical_features":"Vinberg et al. (2025) \"investigated a Chihuahua with severe scaling since age 12 weeks. The scaling was generalized and involved the entire body and legs. The paw pads were mildly hyperkeratotic.\"","defect":true,"group_name":"Ichthyosis, ALOXE3-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011680","iri":"http://purl.obolibrary.org/obo/MONDO_0011680","label":"autosomal recessive congenital ichthyosis 3"}],"name":"","omia_group_id":3011,"omia_phene_id":6682,"omia_record_id":"OMIA:003011-9615","publication_ids":[130843,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6682","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0008064","iri":"http://purl.obolibrary.org/obo/HP_0008064","label":"Ichthyosis"},{"id":"MP:0001192","iri":"http://purl.obolibrary.org/obo/MP_0001192","label":"scaly skin"},{"id":"MP:0001240","iri":"http://purl.obolibrary.org/obo/MP_0001240","label":"abnormal epidermis stratum corneum morphology"},{"id":"MP:0001242","iri":"http://purl.obolibrary.org/obo/MP_0001242","label":"hyperkeratosis"}]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cystic ovary","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":254,"omia_phene_id":6703,"omia_record_id":"OMIA:000254-9615","publication_ids":[130880],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6703","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lipofuscinosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1407,"omia_phene_id":6705,"omia_record_id":"OMIA:001407-9615","publication_ids":[130893],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6705","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ichthyosis, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1993,"omia_phene_id":6713,"omia_record_id":"OMIA:001993-9615","publication_ids":[130954],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6713","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"}],"characterised":true,"characterised_year":2025,"clinical_features":"Murgiano et al. (2025): \"Affected dogs had severe vision deficits present at a young age, generally before 2–3 months of age, and characterized by very poor to absent vision under photopic conditions, but with no evidence of photophobia. ... Full-field electroretinography (ERG) was used for objective assessment of retinal function. .... cone ERG responses were absent as early as 7 weeks of age. We also found that as early as 15 weeks of age, rod responses were reduced by ~60–80% in dogs that showed no vascular attenuation or generalized hyperreflectivity ... .&nbsp;Over time, rod responses were further decreased and no longer recordable, and the ERG was considered ‘extinguished’.\"","defect":true,"group_name":"Retinal atrophy, cone-rod dystrophy, SPATA7-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Pedigree analysis supported an autosomal recessive mode of inheritance (Murgiano et al., 2025).","mondo_terms":[],"name":"day blindness / retinal degeneration","omia_group_id":3028,"omia_phene_id":6728,"omia_record_id":"OMIA:003028-9615","publication_ids":[131142],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6728","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0000512","iri":"http://purl.obolibrary.org/obo/HP_0000512","label":"Abnormal electroretinogram"},{"id":"HP:0000529","iri":"http://purl.obolibrary.org/obo/HP_0000529","label":"Progressive visual loss"},{"id":"HP:0012047","iri":"http://purl.obolibrary.org/obo/HP_0012047","label":"Hemeralopia"},{"id":"MP:0002001","iri":"http://purl.obolibrary.org/obo/MP_0002001","label":"blindness"},{"id":"MP:0004021","iri":"http://purl.obolibrary.org/obo/MP_0004021","label":"abnormal rod electrophysiology"},{"id":"MP:0004022","iri":"http://purl.obolibrary.org/obo/MP_0004022","label":"abnormal cone electrophysiology"}]}
{"breeds":[{"name":"Basenji (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200120"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Reproductive seasonality","inheritance":{"code":"ADIP","name":"Autosomal dominant with incomplete penetrance"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2385,"omia_phene_id":6731,"omia_record_id":"OMIA:002385-9615","publication_ids":[131167],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6731","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Marfan syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0007947","iri":"http://purl.obolibrary.org/obo/MONDO_0007947","label":"Marfan syndrome"}],"name":"","omia_group_id":628,"omia_phene_id":6756,"omia_record_id":"OMIA:000628-9615","publication_ids":[132159,132367],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6756","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Miosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3033,"omia_phene_id":6768,"omia_record_id":"OMIA:003033-9615","publication_ids":[132197],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6768","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2026,"clinical_features":"Rietmann et al. (2026) reported \"At approximately 18 months old, the patient was presented to a veterinarian due to an abnormal growth on one of her outer toes. Upon further examination by a veterinarian, excessive skin growth was observed present on all four paw pads and most of the digital pads to some degree.\"<br>Rietmann et al. (2026) also reported \"At age approximately 16 months, the owner noticed a decreased or inappropriate reaction to commands or verbal clues and expressed suspicion that the patient may have deafness or impaired hearing function. No further investigation was pursued and to this date no clear diagnosis was made.\"","defect":true,"group_name":"Paw pad hyperkeratosis, GJB6-related","inheritance":{"code":"PD","name":"Probably autosomal dominant"},"inheritance_text":"Rietmann et al. (2026) reported a single affected dog that was born out of unaffected parents. The presumed causal variant was the result of a <em>de novo</em> mutation event and the affected dog was heterozygous at this variant. This suggested autosomal dominant inheritance, although transmission to the next generation was not reported.","mondo_terms":[],"name":"","omia_group_id":3038,"omia_phene_id":6783,"omia_record_id":"OMIA:003038-9615","publication_ids":[132263,132264,132412],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6783","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Tragus, accessory","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3042,"omia_phene_id":6792,"omia_record_id":"OMIA:003042-9615","publication_ids":[132311],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6792","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Germline mutation rate","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2732,"omia_phene_id":6803,"omia_record_id":"OMIA:002732-9615","publication_ids":[132385],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6803","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Australian Labradoodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200092"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Peters anomaly","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1914,"omia_phene_id":6813,"omia_record_id":"OMIA:001914-9615","publication_ids":[132488],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6813","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Boerboel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200185"}],"characterised":true,"characterised_year":2026,"clinical_features":"","defect":true,"group_name":"Autoimmune lymphoproliferative syndrome, FAS-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011158","iri":"http://purl.obolibrary.org/obo/MONDO_0011158","label":"autoimmune lymphoproliferative syndrome type 1"}],"name":"","omia_group_id":3045,"omia_phene_id":6823,"omia_record_id":"OMIA:003045-9615","publication_ids":[132515,132516],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6823","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"}],"characterised":true,"characterised_year":2026,"clinical_features":"Bionda et al. (2026) report related male English Cocker Spaniel dogs with a progressive vision deficit. Retinal pathology was recorded around 3-4 years of age with a possible earlier onset of visual impairment.&nbsp;&nbsp;","defect":true,"group_name":"Retinal atrophy, progressive, CACNA1F-related","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"","mondo_terms":[],"name":"X-linked progressive retinal atrophy","omia_group_id":3046,"omia_phene_id":6827,"omia_record_id":"OMIA:003046-9615","publication_ids":[132561],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6827","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Monorchidism","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":659,"omia_phene_id":6829,"omia_record_id":"OMIA:000659-9615","publication_ids":[132573],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6829","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"}],"characterised":true,"characterised_year":2026,"clinical_features":"Brown et al. (2026) \"juvenile-onset AD [Addison’s disease, hypoadrenocorticism] in NSDTRs [Nova Scotia Duck Tolling Retrievers] represents part of a broader multiple autoimmune syndrome (MAS) with variable expressivity. Strikingly, NSDTRs affected by juvenile-onset AD had severely decreased lifespans, with a median survival of 2 years despite appropriate treatment.\"","defect":true,"group_name":"Addison’s  disease and multiple autoimmune syndrome, RESF1-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3051,"omia_phene_id":6840,"omia_record_id":"OMIA:003051-9615","publication_ids":[132650,132651],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6840","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2026,"clinical_features":"Leonardi et al. (2026): \"Clinical signs included megaesophagus with generalized muscle atrophy in both affected dogs. One dog showed exercise intolerance. Computed tomography (CT) scan revealed bilateral and symmetrical diffuse hypoattenuating muscle lesions. Electromyography was characterized by nonspecific abnormal spontaneous activity in electrodiagnostically affected muscles. ... All clinical signs improved after 3 days of creatine (800-1500 mg/kg/day) and<br>L-carnitine (80-150 mg/kg) supplementation and remained stable at the time of writing 4 months after diagnosis.\"","defect":true,"group_name":"Myopathy, creatine deficiency disorder, GATM-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3056,"omia_phene_id":6857,"omia_record_id":"OMIA:003056-9615","publication_ids":[132819,132820],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6857","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2026,"clinical_features":"Shekelle et al. (2026): \"A mixed-breed male puppy had a 6-month history of progressive cerebellar ataxia and head tremors ... .\" without a clinically detectable cause. Euthanasia with a necropsy was elected based on the severity of the puppy's clinical signs and lack of response to treatment. At necropsy, the cerebellum was mildly atrophied, and microscopically there was severe diffuse loss of the cerebellar internal granular cell layer with minimal loss of Purkinje cells (granuloprival degeneration).&nbsp;","defect":true,"group_name":"Cerebellar atrophy, EMC1-related","inheritance":{"code":"PD","name":"Probably autosomal dominant"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014811","iri":"http://purl.obolibrary.org/obo/MONDO_0014811","label":"cerebellar atrophy, visual impairment, and psychomotor retardation;"}],"name":"Granuloprival cerebellar cortical degeneration","omia_group_id":3057,"omia_phene_id":6860,"omia_record_id":"OMIA:003057-9615","publication_ids":[132832],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6860","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"}],"characterised":true,"characterised_year":2026,"clinical_features":"Shelton et al. (2026) \"describe an 8-year-old intact male Jack Russell Terrier with a 9-month history of slowly progressive gait disturbances that advanced over 2 years to generalized stiffness without ataxia and severe bilateral hyperflexion of all limbs. ... Complete blood count and serum biochemistry analysis including creatine kinase activity were normal. Electrophysiological examination showed no abnormalities. Muscle biopsy samples collected at a later stage of the disease showed no abnormalities.\"","defect":true,"group_name":"Ataxia, SETX-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3058,"omia_phene_id":6861,"omia_record_id":"OMIA:003058-9615","publication_ids":[132840],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6861","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2026,"clinical_features":"Abitbol et al. (2026) reported on a total of 6 affected dogs with non-goitrous hypothyroidism. Their breeders had noticed delayed growth and development two weeks after birth. Affected dogs had increased thyroid-stimulating hormone (TSH) and decreased total thyroxin (total T4) serum concentrations. The condition can be alleviated by oral thyroxin supplementation. However, even under T4 supplementation, the majority of the affected dogs exhibited pronounced dwarfism and painful orthopedic problems. Two affected dogs died at 9 and 10 months, respectively, despite oral thyroxin supplementation. Two other affected dogs had to be euthanised at 5 months of age due to pain and behavioral changes. Two affected dogs reached adulthood under thyroxin supplementation. They were markedly smaller than their non-affected littermates. Other clinical signs included limb deformities, shortening of the tail, abnormally thick skin, fatigue, and behavioral changes.","defect":true,"group_name":"Hypothyroidism and dwarfism, TG-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3059,"omia_phene_id":6865,"omia_record_id":"OMIA:003059-9615","publication_ids":[110115,132879,132880],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6865","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Border Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200194"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Saluki (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201171"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2026,"clinical_features":"Kiener et al. (2026): Affected dogs presented with \"multifocal hyperkeratotic skin lesions. The lesions in male dogs were arranged in a bilaterally symmetrical distribution, whereas in several female cases, lesions followed Blaschko lines and were not symmetric. ... &nbsp;The appearance of the lesions was reminiscent of tree bark.\"","defect":true,"group_name":"Phloiokeratosis, SUV39H1-related","inheritance":{"code":"XLSD","name":"X-linked incomplete dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3060,"omia_phene_id":6871,"omia_record_id":"OMIA:003060-9615","publication_ids":[132986],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6871","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"}],"characterised":true,"characterised_year":2026,"clinical_features":"Stee et al. (2026): \"A 7-month-old Belgian Malinois puppy was presented for progressively worsening ataxia and episodes of aggression. General physical examination was unremarkable, and neurological examination revealed ambulatory tetraparesis, spinocerebellar ataxia, thoracic limb pseudo-hypermetria, exaggerated head movements, bilateral vestibular signs and a bilateral divergent strabismus. A magnetic resonance imaging (MRI) of the brain and cervical spinal cord revealed a generalized cerebral atrophy.\"","defect":true,"group_name":"Leukoencephalomyelopathy, NECAP1-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014360","iri":"http://purl.obolibrary.org/obo/MONDO_0014360","label":"developmental and epileptic encephalopathy, 21"}],"name":"Leukoencephalomyelopathy with oligodendroglial dysplasia, spinocerebellar ataxia","omia_group_id":3061,"omia_phene_id":6873,"omia_record_id":"OMIA:003061-9615","publication_ids":[133016],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6873","source_release":"retrieved-2026-09-12","summary":"See also <a href=\"../../../../../../OMIA002198/9615/\">OMIA:002198-9615</a> : Retinal atrophy, progressive, NECAP1-related in Canis lupus familiaris (dog) for a different phenotype caused by variants in the same gene.","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Black and Tan Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200168"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2026,"clinical_features":"Pieples et al. (2026): \"A 4-month-old male Black and Tan Coonhound presented with spontaneous hemoperitoneum, thrombocytopenia, and persistent bleeding after surgical procedures. .... A functional FXIII deficiency was identified ... .\"","defect":true,"group_name":"Factor XIII deficiency, F13A1-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013187","iri":"http://purl.obolibrary.org/obo/MONDO_0013187","label":"factor XIII, A subunit, deficiency of"}],"name":"FXIII","omia_group_id":1818,"omia_phene_id":6882,"omia_record_id":"OMIA:001818-9615","publication_ids":[133110,133111],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6882","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Aortic aneurysm, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2094,"omia_phene_id":6940,"omia_record_id":"OMIA:002094-9615","publication_ids":[133319],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6940","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2025,"clinical_features":"","defect":true,"group_name":"Cardiomyopathy, TNNI3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2331,"omia_phene_id":6950,"omia_record_id":"OMIA:002331-9615","publication_ids":[133430],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6950","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"}],"characterised":true,"characterised_year":2026,"clinical_features":"Shelton et al. (2026): \"Dancing Doberman Disease, suspected to be neuropathy or neuromyopathy, is characterized by repeated lifting and shifting of the pelvic limbs while standing and frequent sitting. More recently, Doberman Pinschers have been identified with a different and more severe phenotype characterized by a crouched stance and bunny hopping gait in the pelvic limbs that is termed duck walking. Dogs with both phenotypes show pelvic limb weakness, muscle atrophy, and fatigue, and clinical signs can progress to involve the thoracic limbs.\"&nbsp;","defect":false,"group_name":"Myasthenic syndrome, AGRN-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014052","iri":"http://purl.obolibrary.org/obo/MONDO_0014052","label":"congenital myasthenic syndrome 8"}],"name":"Dancing Doberman Disease (DDD), Duck Walking Doberman Disease (DWD)","omia_group_id":3073,"omia_phene_id":6956,"omia_record_id":"OMIA:003073-9615","publication_ids":[133500],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6956","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"}],"characterised":true,"characterised_year":2026,"clinical_features":"Mead et al. (2026): \" Three female Cocker Spaniel siblings presented with chronic rhinitis/bronchitis from day three of life that resisted standard veterinary treatment. Pathophysiological examination of bronchial and nasal mucosal cellular samples using high‐speed video microscopy and electron microscopy ... confirmed the diagnosis of PCD. ... Situs inversus was not observed in the affected pups.\"","defect":false,"group_name":"Ciliary dyskinesia, primary, SPAG1-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014216","iri":"http://purl.obolibrary.org/obo/MONDO_0014216","label":"primary ciliary dyskinesia 28"}],"name":"","omia_group_id":3074,"omia_phene_id":6958,"omia_record_id":"OMIA:003074-9615","publication_ids":[133512],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6958","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chorioretinopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3075,"omia_phene_id":6961,"omia_record_id":"OMIA:003075-9615","publication_ids":[133530],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6961","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}
{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Meniere disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3076,"omia_phene_id":6966,"omia_record_id":"OMIA:003076-9615","publication_ids":[133563],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6966","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]}