DNA-testable inherited disorders in companion animals — OMIA characterised causal variants by species, gene and pathogenicity class
Derived from the OMIA database dump (omia.xml; Nicholas, F.W., Tammen, I., & Sydney Informatics Hub. (2026). Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70). This compilation lists every companion-animal phene for which OMIA records a characterised causal variant — the set of inherited disorders that are in principle DNA-testable. Structured fields (gene, chromosome, cDNA/protein change, rsID, pathogenicity class) are first-hand values from the OMIA Variant and PathogenicityClassification tables, traceable line-by-line to pdf-raw/omia/dna_test_matrix_companion.txt; pathogenicity classes follow ACMG-style labels (P = pathogenic, LP = likely pathogenic, VUS = variant of uncertain significance, LB/B = likely benign/benign). Livestock and laboratory-model species are excluded by design. Data made available by software support from the Sydney Informatics Hub, funded from the Ronald Bruce Anstee bequest to the Sydney School of Veterinary Science for the Anstee Hub for Inherited Diseases in Animals (AHIDA). FAIR use with attribution confirmed by OMIA curator (A/Prof I. Tammen) 2026-08-22.
122 disorders, 122 characterised variants, 6 companion species/taxa. Each disorder links back to its OMIA entry.
Dog (Canis lupus familiaris)
| Disorder | Gene | cDNA change | Protein change | rsID | Class | OMIA |
|---|---|---|---|---|---|---|
| Adrenal cortical atrophy | XM_012178620.3:c.645_648del | XP_012034010.1:p.(L215Ffs*34) | Not currently evaluated | [OMIA16](https://omia.org/OMIA000016/9615/) | ||
| Afibrinogenaemia or hypofibrinogenaemia | Not currently evaluated | [OMIA18](https://omia.org/OMIA000018/9615/) | ||||
| Alopecia, generic | NM_001048133.1:c.-24_32del | P | [OMIA30](https://omia.org/OMIA000030/9615/) | |||
| Aphakia | NM_001314111.1:c.656C>T | NP_001301040.1:p.(P219L) | Not currently evaluated | [OMIA54](https://omia.org/OMIA000054/9615/) | ||
| Autoimmune thrombocytopenia | Mafa_ABO | p.266L + p.268G | Not currently evaluated | [OMIA95](https://omia.org/OMIA000095/9615/) | ||
| Axonopathy, progressive | Not currently evaluated | [OMIA825](https://omia.org/OMIA000825/9615/) | ||||
| Blood group systems, generic | Not currently evaluated | [OMIA116](https://omia.org/OMIA000116/9615/) | ||||
| Calcinosis circumscripta | XM_042246797.1:c.2908G > A | XP_042102731.1:p.(G970S) | Not currently evaluated | [OMIA158](https://omia.org/OMIA000158/9615/) | ||
| Cardiomyopathy | PrP | p.(H143R) | Not currently evaluated | [OMIA160](https://omia.org/OMIA000160/9615/) | ||
| Cardiomyopathy, dilated | XM_038549826.1:c.261C>A | XP_038405754.1:p.(Y87*) | Not currently evaluated | [OMIA162](https://omia.org/OMIA000162/9615/) | ||
| Chondrodysplasia, generic | c.[124G>A;125_130del6] | Not currently evaluated | [OMIA187](https://omia.org/OMIA000187/9615/) | |||
| Conotruncal heart malformations | SCFR | Not currently evaluated | [OMIA224](https://omia.org/OMIA000224/9615/) | |||
| Coxofemoral dysplasia | Not currently evaluated | [OMIA233](https://omia.org/OMIA000233/9615/) | ||||
| Coxofemoral luxation | c.819_820ins90 | Not currently evaluated | [OMIA234](https://omia.org/OMIA000234/9615/) | |||
| Cushing syndrome, ACTH-dependent, pituitary-dependent hyperadrenocorticism | NM_001197029.1:c.451C>T | NP_001183958.1:p.(R151W) | rs23373415 | Not currently evaluated | [OMIA247](https://omia.org/OMIA000247/9615/) | |
| Dermatomyositis | p.(V311_K333del) | Not currently evaluated | [OMIA270](https://omia.org/OMIA000270/9615/) | |||
| Diamond-Blackfan anaemia, generic | PLP | T>A | Not currently evaluated | [OMIA41](https://omia.org/OMIA000041/9615/) | ||
| Dysautonomia | GDF-8 | c.*1232G>A | Not currently evaluated | [OMIA312](https://omia.org/OMIA000312/9615/) | ||
| Entropion | NM_001034039.2:c.4234G>A | NP_001029211.1:p.(D1412N) | Not currently evaluated | [OMIA337](https://omia.org/OMIA000337/9615/) | ||
| Fucosidosis, alpha | MC1-R | NM_001008690.1:c.727G>A | NP_001008690.1:p.(A243T) | Not currently evaluated | [OMIA396](https://omia.org/OMIA000396/9615/) | |
| Gangliosidosis, GM1 | T1R2 | Not currently evaluated | [OMIA402](https://omia.org/OMIA000402/9615/) | |||
| Gangliosidosis, GM2, generic | XM_022425933.1:c.1643T>C | XP_022281641.1:p.(V548A) | Not currently evaluated | [OMIA403](https://omia.org/OMIA000403/9615/) | ||
| Gaucher disease, generic | Not currently evaluated | [OMIA405](https://omia.org/OMIA000405/9615/) | ||||
| Gingival hypertrophy | Not currently evaluated | [OMIA409](https://omia.org/OMIA000409/9615/) | ||||
| Glomerulonephritis | GDF8 | NM_001001525.3:c.871G>T | NP_001001525.1:p.(E291*) | rs5334475075 | Not currently evaluated | [OMIA413](https://omia.org/OMIA000413/9615/) |
| Glomerulonephropathy | p.(V311_K333del) | Not currently evaluated | [OMIA414](https://omia.org/OMIA000414/9615/) | |||
| Glossopharyngeal defect | Not currently evaluated | [OMIA415](https://omia.org/OMIA000415/9615/) | ||||
| Glycogen storage disease VII | ATP-PFK | Not currently evaluated | [OMIA421](https://omia.org/OMIA000421/9615/) | |||
| Goitre, familial | TYRO | Not currently evaluated | [OMIA424](https://omia.org/OMIA000424/9615/) | |||
| Haemolytic anaemia, primary autoimmune | Not currently evaluated | [OMIA434](https://omia.org/OMIA000434/9615/) | ||||
| Haemophilia A | c.574-589del | Not currently evaluated | [OMIA437](https://omia.org/OMIA000437/9615/) | |||
| Haemophilia B | XM_006929856.5:c.1000G>A | XP_006929918.1:p.(A334T) | rs5334475117 | Not currently evaluated | [OMIA438](https://omia.org/OMIA000438/9615/) | |
| Heart defect, congenital | c.286C>T | p.(R96C) | Not currently evaluated | [OMIA446](https://omia.org/OMIA000446/9615/) | ||
| Hepatitis, neonatal | NM_001244985.1:c.1603G>A | NP_001231914.1:p.(D535N) | rs5334475141 | Not currently evaluated | [OMIA1094](https://omia.org/OMIA001094/9615/) | |
| Hernia, hiatal | NP_001098835.1:904G>A | NP_001098835.1:p.(G302S) | Not currently evaluated | [OMIA461](https://omia.org/OMIA000461/9615/) | ||
| Hyperkinesis | GDF8 | NM_001001525.3:c.871G>T | NP_001001525.1:p.(E291*) | rs5334475075 | Not currently evaluated | [OMIA503](https://omia.org/OMIA000503/9615/) |
| Hyperlipoproteinaemia | PrP | c.426A>G | p.(I142M) | rs268292980 | Not currently evaluated | [OMIA1210](https://omia.org/OMIA001210/9615/) |
| Hypotrichosis, generic | c.1646del | Not currently evaluated | [OMIA540](https://omia.org/OMIA000540/9615/) | |||
| Immunodeficiency | null | c.D153del | Not currently evaluated | [OMIA550](https://omia.org/OMIA000550/9615/) | ||
| Intestinal cobalamin malabsorption, AMN-related | Not currently evaluated | [OMIA565](https://omia.org/OMIA000565/9615/) | ||||
| Masticatory muscle myositis | XM_022419456.1:c.871C>T | XP_022275164.1:p.(R291*) | Not currently evaluated | [OMIA1134](https://omia.org/OMIA001134/9615/) | ||
| Microphthalmia | Not currently evaluated | [OMIA649](https://omia.org/OMIA000649/9615/) | ||||
| Mucopolysaccharidosis VII | c.574-589del | Not currently evaluated | [OMIA667](https://omia.org/OMIA000667/9615/) | |||
| Myasthenia | NM_001048133.1:c.-24_32del | P | [OMIA684](https://omia.org/OMIA000684/9615/) | |||
| Myoclonus epilepsy of Lafora | ZFHX1B | Not currently evaluated | [OMIA690](https://omia.org/OMIA000690/9615/) | |||
| Nephritis, X-linked | SLC6A5 | c.809T>C | p.(L270P) | rs3423560860 | Not currently evaluated | [OMIA1112](https://omia.org/OMIA001112/9615/) |
| Neutropenia, cyclic | Not currently evaluated | [OMIA248](https://omia.org/OMIA000248/9615/) | ||||
| Osmotic resistance of erythrocytes | Not currently evaluated | [OMIA746](https://omia.org/OMIA000746/9615/) | ||||
| Patent ductus arteriosus | PLP | T>A | Not currently evaluated | [OMIA779](https://omia.org/OMIA000779/9615/) | ||
| Persistence of immature pyruvate kinase and hexokinase isozymes | PLP | T>A | Not currently evaluated | [OMIA790](https://omia.org/OMIA000790/9615/) | ||
| Persistent Mullerian duct syndrome, generic | PLP | T>A | Not currently evaluated | [OMIA791](https://omia.org/OMIA000791/9615/) | ||
| Prekallikrein deficiency | ZFHX1B | Not currently evaluated | [OMIA819](https://omia.org/OMIA000819/9615/) | |||
| Renal dysplasia | c.647-36_647-35insN[226] | Not currently evaluated | [OMIA1135](https://omia.org/OMIA001135/9615/) | |||
| Retinal atrophy - Rod-cone dysplasia 1 | PDBS | Not currently evaluated | [OMIA882](https://omia.org/OMIA000882/9615/) | |||
| Retinal atrophy - Rod-cone dysplasia, CRX related | Not currently evaluated | [OMIA881](https://omia.org/OMIA000881/9615/) | ||||
| Sex reversal, generic (redundant) | c.6119C>T | p.(T2020M) | Not currently evaluated | [OMIA900](https://omia.org/OMIA000900/9615/) | ||
| Shoulder luxation | c.653_654insC | p.(M114Hfs*16) | Not currently evaluated | [OMIA912](https://omia.org/OMIA000912/9615/) | ||
| Sodium-potassium-ATPase, high activity | Not currently evaluated | [OMIA924](https://omia.org/OMIA000924/9615/) | ||||
| Sudden death | ZFHX1B | Not currently evaluated | [OMIA955](https://omia.org/OMIA000955/9615/) | |||
| Tail, short | C20H19orf28 | XM_038567816.1:c.151C>T | XP_038423744.1:p.(R51C) | rs22915955 | Not currently evaluated | [OMIA975](https://omia.org/OMIA000975/9615/) |
| Taillessness | Not currently evaluated | [OMIA977](https://omia.org/OMIA000977/9615/) |
Cat (Felis catus)
| Disorder | Gene | cDNA change | Protein change | rsID | Class | OMIA |
|---|---|---|---|---|---|---|
| Achalasia of the oesophagus, congenital | rs654545998 | Not currently evaluated | [OMIA3](https://omia.org/OMIA000003/9685/) | |||
| Anodontia | XM_014109833.2:c.107G>C | XP_013965308.1:p.(C36S) | rs1152388503 | Not currently evaluated | [OMIA48](https://omia.org/OMIA000048/9685/) | |
| Aorticopulmonary septal defect | c.20-21dup | Not currently evaluated | [OMIA53](https://omia.org/OMIA000053/9685/) | |||
| Ataxia, generic | XM_005637485.3:c.85G>A | XP_005637542.1:p.(V29M) | Not currently evaluated | [OMIA77](https://omia.org/OMIA000077/9685/) | ||
| Atresia ani | c.33+1G>A | Not currently evaluated | [OMIA83](https://omia.org/OMIA000083/9685/) | |||
| Autoimmune thrombocytopenia | Mafa_ABO | p.266L + p.268G | Not currently evaluated | [OMIA95](https://omia.org/OMIA000095/9685/) | ||
| Axonopathy, peripheral | XM_005624636.3:c.224G>A | XP_005624693.1:p.(W75*) | Not currently evaluated | [OMIA99](https://omia.org/OMIA000099/9685/) | ||
| Blood group system AB | TVA | NM_001044645.1:c.186C>G | NP_001038110.1:p.(C62W) | Not currently evaluated | [OMIA119](https://omia.org/OMIA000119/9685/) | |
| Cerebellar hypoplasia | NM_001048129.1:c.368-11T>A | rs397511324 | Not currently evaluated | [OMIA179](https://omia.org/OMIA000179/9685/) | ||
| Coat colour, pink-eyed dilution | NP_001098835.1:904G>A | NP_001098835.1:p.(G302S) | Not currently evaluated | [OMIA212](https://omia.org/OMIA000212/9685/) | ||
| Cyclopia | Not currently evaluated | [OMIA249](https://omia.org/OMIA000249/9685/) | ||||
| Dandy-Walker syndrome | Not currently evaluated | [OMIA258](https://omia.org/OMIA000258/9685/) | ||||
| Diabetes mellitus | NM_001009333.2:c.40del | NP_001009333.2:p.(L14Sfs*82) | P | [OMIA279](https://omia.org/OMIA000279/9685/) | ||
| Diabetes mellitus, type 2 | 35DAG | Not currently evaluated | [OMIA284](https://omia.org/OMIA000284/9685/) | |||
| Ears, folded (drop vs prick) | NM_173913.2:c.1057_1058del | NP_776338.1:p.(Y353L) | Not currently evaluated | [OMIA319](https://omia.org/OMIA000319/9685/) | ||
| Ectrodactyly | ZFHX1B | Not currently evaluated | [OMIA324](https://omia.org/OMIA000324/9685/) | |||
| Encephalomyelopathy | Not currently evaluated | [OMIA335](https://omia.org/OMIA000335/9685/) | ||||
| Eye colour | Not currently evaluated | [OMIA357](https://omia.org/OMIA000357/9685/) | ||||
| Eyelid gland, third, prolapse of | ZFHX1B | Not currently evaluated | [OMIA359](https://omia.org/OMIA000359/9685/) | |||
| Fibrodysplasia ossificans | Not currently evaluated | [OMIA388](https://omia.org/OMIA000388/9685/) | ||||
| Fucosidosis, alpha | p.(L530P) | Not currently evaluated | [OMIA396](https://omia.org/OMIA000396/9685/) | |||
| Gangliosidosis, GM2, generic | XM_022425933.1:c.1643T>C | XP_022281641.1:p.(V548A) | Not currently evaluated | [OMIA403](https://omia.org/OMIA000403/9685/) | ||
| Goitre, familial | XM_022425933.1:c.1643T>C | XP_022281641.1:p.(V548A) | Not currently evaluated | [OMIA424](https://omia.org/OMIA000424/9685/) | ||
| Haemophilia B | NM_001192797.1:c.1222C>T | NP_001179726.1:p.(H408T) | rs5334475098 | Not currently evaluated | [OMIA438](https://omia.org/OMIA000438/9685/) | |
| Heart defect, congenital | ED1 | Not currently evaluated | [OMIA446](https://omia.org/OMIA000446/9685/) | |||
| Hypoparathyroidism | XM_038583131.1:c.673T>C | XP_038439059.1:p.Y225H | Not currently evaluated | [OMIA528](https://omia.org/OMIA000528/9685/) | ||
| Hypotrichosis with thymic aplasia, congenital | c.1322G>A | p.(R441Q) | Not currently evaluated | [OMIA544](https://omia.org/OMIA000544/9685/) | ||
| Hypotrichosis, generic | c.731G>T | p.(C244F) | Not currently evaluated | [OMIA540](https://omia.org/OMIA000540/9685/) | ||
| Megaoesophagus, generic | XM_045050794.1:c.1180C>T | XP_044906729.1:p.(R394*) | rs7111000092 | Not currently evaluated | [OMIA631](https://omia.org/OMIA000631/9685/) | |
| Monorchidism | XM_023617086.1:c.50G>A | XP_023472854.1:p.(R17K) | rs3447120064 | Not currently evaluated | [OMIA659](https://omia.org/OMIA000659/9685/) | |
| Muscular dystrophy, Duchenne type | Not currently evaluated | [OMIA1081](https://omia.org/OMIA001081/9685/) | ||||
| Olivopontocerebellar atrophy | TYRO | Not currently evaluated | [OMIA740](https://omia.org/OMIA000740/9685/) | |||
| Persistent Mullerian duct syndrome, generic | PLP | T>A | Not currently evaluated | [OMIA791](https://omia.org/OMIA000791/9685/) | ||
| Rectovaginal fistula (redundant) | NM_001010944.1:c.124+1G>A | Not currently evaluated | [OMIA851](https://omia.org/OMIA000851/9685/) | |||
| Retinitis pigmentosa, peripherin-related | NM_001009333.2:c.40del | NP_001009333.2:p.(L14Sfs*82) | P | [OMIA871](https://omia.org/OMIA000871/9685/) | ||
| Sex reversal, generic (redundant) | NM_001048133.1:c.-24_32del | P | [OMIA900](https://omia.org/OMIA000900/9685/) | |||
| Situs inversus | Not currently evaluated | [OMIA1102](https://omia.org/OMIA001102/9685/) | ||||
| Waardenburg syndrome, generic | NM_001197095.1:c.101dup | NP_001184024.1:p.(A35Gfs*56) | Not currently evaluated | [OMIA1059](https://omia.org/OMIA001059/9685/) |
Rabbit (Oryctolagus cuniculus)
| Disorder | Gene | cDNA change | Protein change | rsID | Class | OMIA |
|---|---|---|---|---|---|---|
| Chondrodystrophy | c.901+1G>A | Not currently evaluated | [OMIA189](https://omia.org/OMIA000189/9986/) | |||
| Coat colour, dominant white | c.1467C>T | p.(R512*) | Not currently evaluated | [OMIA209](https://omia.org/OMIA000209/9986/) | ||
| Ehlers-Danlos syndrome, generic | Not currently evaluated | [OMIA327](https://omia.org/OMIA000327/9986/) | ||||
| Left ostium straight | c.1400G>T | p.(G467V) | Not currently evaluated | [OMIA583](https://omia.org/OMIA000583/9986/) |
Horse (Equus caballus)
| Disorder | Gene | cDNA change | Protein change | rsID | Class | OMIA |
|---|---|---|---|---|---|---|
| Arytenoid chondritis | NM_001103215.1:c.4726C>T | NP_001096685.1:p.(R1576*) | Not currently evaluated | [OMIA74](https://omia.org/OMIA000074/9796/) | ||
| Atlanto occipital fusion | XM_045038859.1:c.1017G>A | XP_044894794.1:p.(W339*) | Not currently evaluated | [OMIA81](https://omia.org/OMIA000081/9796/) | ||
| Blood group systems, generic | NM_001003343.1:c.2668C>T | NP_001003343.1:p.(R890*) | Not currently evaluated | [OMIA116](https://omia.org/OMIA000116/9796/) | ||
| Coat colour, generic | XM_011285657.3:c.160del | XP_011283959.1:p.(H54Tfs*108) | Not currently evaluated | [OMIA200](https://omia.org/OMIA000200/9796/) | ||
| Cribbing | NM_001003009.2:c.1777C>T | NP_001003009.2:p.(R593W) | Not currently evaluated | [OMIA241](https://omia.org/OMIA000241/9796/) | ||
| Dermal allergy | NM_001003148.1:c.8392del | NP_001003148.1:p.(Q2798Rfs*3) | Not currently evaluated | [OMIA268](https://omia.org/OMIA000268/9796/) | ||
| Difference of sexual development, generic | MATP | XM_001498110.4:c.449G>A | XP_001498160.2:p.(R150Q) | rs5334475197 | Not currently evaluated | [OMIA564](https://omia.org/OMIA000564/9796/) |
| Exercise-induced pulmonary haemorrhage | VMD2 | NM_001097545.1:c.482G>A | NP_001091014.1:p.(G161D) | Not currently evaluated | [OMIA1896](https://omia.org/OMIA001896/9796/) | |
| Haemophilia A | NM_001048133.1:c.910G>A | NP_001041598.1:p.(G304R) | LP/P | [OMIA437](https://omia.org/OMIA000437/9796/) | ||
| Hernia, umbilical | PLP | T>A | Not currently evaluated | [OMIA465](https://omia.org/OMIA000465/9796/) | ||
| Hoof, flat | c.984del | p.(I330Sfs*2) | Not currently evaluated | [OMIA480](https://omia.org/OMIA000480/9796/) | ||
| Laryngeal paralysis, generic | NP_001098835.1:904G>A | NP_001098835.1:p.(G302S) | Not currently evaluated | [OMIA1206](https://omia.org/OMIA001206/9796/) | ||
| Prekallikrein deficiency | XM_019812397.2:c.2453C>T | XP_019667956.2:p.(R818W) | P | [OMIA819](https://omia.org/OMIA000819/9796/) | ||
| Resistance to encephalomyelitis | Not currently evaluated | [OMIA334](https://omia.org/OMIA000334/9796/) | ||||
| Twinning | XM_023617086.1:c.50G>A | XP_023472854.1:p.(R17K) | rs3447120064 | Not currently evaluated | [OMIA1022](https://omia.org/OMIA001022/9796/) |
Guinea pig (Cavia porcellus)
| Disorder | Gene | cDNA change | Protein change | rsID | Class | OMIA |
|---|---|---|---|---|---|---|
| Polydactyly | Not currently evaluated | [OMIA810](https://omia.org/OMIA000810/10141/) | ||||
| Spermatogenic hypoplasia | XM_038583131.1:c.673T>C | XP_038439059.1:p.Y225H | Not currently evaluated | [OMIA1136](https://omia.org/OMIA001136/10141/) | ||
| Thyroiditis | XM_022419456.1:c.871C>T | XP_022275164.1:p.(R291*) | Not currently evaluated | [OMIA1005](https://omia.org/OMIA001005/10141/) |
Ferret (Mustela putorius furo)
| Disorder | Gene | cDNA change | Protein change | rsID | Class | OMIA |
|---|---|---|---|---|---|---|
| Cataract, generic | Not currently evaluated | [OMIA168](https://omia.org/OMIA000168/9669/) |