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234 phene records found

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OMIA ID Phene Species Scientific Name Species Common NameGene Year Key Mutation First ReportedDate Last Modified
OMIA 000002-9796AbrachiaEquus caballushorse
OMIA 000028-9796Alloimmune haemolytic anaemia of the newbornEquus caballushorse
OMIA 001702-9796Alopecia areataEquus caballushorse
OMIA 000039-9796Amyloidosis, lambdaEquus caballushorse
OMIA 000991-9796Androgen insensitivity syndrome (AIS)Equus caballushorse AR 2012
OMIA 000045-9796Aniridia with cataractEquus caballushorse
OMIA 002094-9796Aortic ruptureEquus caballushorse
OMIA 000064-9796ArthritisEquus caballushorse
OMIA 000069-9796Arthrogryposis, genericEquus caballushorse
OMIA 000074-9796Arytenoid chondritisEquus caballushorse
OMIA 000081-9796Atlanto occipital fusionEquus caballushorse HOXD3 2017
OMIA 000085-9796Atresia coliEquus caballushorse
OMIA 000087-9796Atresia intestinalEquus caballushorse
OMIA 001181-9796Atrial fibrillationEquus caballushorse
OMIA 000090-9796Atrial septal defect and atrial fibrillationEquus caballushorse
OMIA 002187-9796Bilateral corneal stromal lossEquus caballushorse
OMIA 000122-9796Blood group system DEquus caballushorse
OMIA 001291-9796Blood group system UEquus caballushorse
OMIA 000116-9796Blood group systems, genericEquus caballushorse
OMIA 001858-9796Bone fractureEquus caballushorse
OMIA 001232-9796Bone spavinEquus caballushorse
OMIA 000147-9796BrachygnathiaEquus caballushorse
OMIA 002021-9796Brindle 1Equus caballushorse MBTPS2 2016
OMIA 000168-9796Cataract, genericEquus caballushorse
OMIA 000175-9796Cerebellar abiotrophyEquus caballushorse sMUTYH, TOE1 2011
OMIA 001894-9796Cervical vertebral compressive myelopathyEquus caballushorse
OMIA 001764-9796Choanal atresiaEquus caballushorse
OMIA 000197-9796Cleft palateEquus caballushorse
OMIA 000201-9796Coat colour, agoutiEquus caballushorse ASIP 2001
OMIA 002124-9796Coat colour, albinism, oculocutaneous type VIEquus caballushorse SLC24A5 2017
OMIA 001249-9796Coat colour, brownEquus caballushorse
OMIA 001263-9796Coat colour, champagneEquus caballushorse SLC36A1 2008
OMIA 001344-9796Coat colour, cream dilutionEquus caballushorse SLC45A2 2003
OMIA 000031-9796Coat colour, diluteEquus caballushorse
OMIA 000209-9796Coat colour, dominant whiteEquus caballushorse KIT 2005
OMIA 001972-9796Coat colour, dunEquus caballushorse TBX3 2016
OMIA 001199-9796Coat colour, extensionEquus caballushorse MC1R 1996
OMIA 001356-9796Coat colour, grey/grayEquus caballushorse STX17 2008
OMIA 002139-9796Coat colour, Leopard Complex SpottingEquus caballushorse TRPM1
OMIA 001216-9796Coat colour, roanEquus caballushorse
OMIA 001438-9796Coat colour, silverEquus caballushorse PMEL 2006
OMIA 001884-9796Coat colour, white markingsEquus caballushorse
OMIA 000214-9796Coat colour, white spottingEquus caballushorse MITF 2012
OMIA 001688-9796Coat colour, white spotting, PAX3-relatedEquus caballushorse PAX3 2012
OMIA 000200-9796Coat colours, genericEquus caballushorse
OMIA 000219-9796ColobomaEquus caballushorse
OMIA 001760-9796Common Variable ImmunoDeficiencyEquus caballushorse
OMIA 001938-9796Congenital liver fibrosis (CLF)Equus caballushorse
OMIA 000234-9796Coxofemoral luxationEquus caballushorse
OMIA 000241-9796CribbingEquus caballushorse
OMIA 000243-9796CryptorchidismEquus caballushorse
OMIA 000245-9796Curly coatEquus caballushorse KRT25 2017
OMIA 002175-9796Curly coat with hypotrichosisEquus caballushorse SP6 2018
OMIA 000249-9796CyclopiaEquus caballushorse
OMIA 000259-9796DeafnessEquus caballushorse
OMIA 002086-9796Degenerative suspensory ligament desmitisEquus caballushorse
OMIA 000268-9796Dermal allergyEquus caballushorse
OMIA 000278-9796Diabetes insipidusEquus caballushorse
OMIA 000279-9796Diabetes mellitusEquus caballushorse
OMIA 000299-9796DwarfismEquus caballushorse
OMIA 001271-9796Dwarfism, ACAN-relatedEquus caballushorse ACAN 2017
OMIA 002068-9796Dwarfism, FriesianEquus caballushorse B4GALT7 2016
OMIA 000312-9796DysautonomiaEquus caballushorse
OMIA 001891-9796Ectopic ureterEquus caballushorse
OMIA 000327-9796Ehlers-Danlos syndromeEquus caballushorse PPIB 2007
OMIA 001982-9796Ehlers-Danlos Syndrome, type VI (WBFFS)Equus caballushorse PLOD1 2011
OMIA 000335-9796EncephalomyelopathyEquus caballushorse
OMIA 001803-9796Endocardial fibroelastosisEquus caballushorse
OMIA 000337-9796EntropionEquus caballushorse
OMIA 001677-9796Epidermolysis bullosa, junctionalis, LAMA3-relatedEquus caballushorse LAMA3 2009
OMIA 001678-9796Epidermolysis bullosa, junctionalis, LAMC2-relatedEquus caballushorse LAMC2 2002
OMIA 000344-9796EpilepsyEquus caballushorse
OMIA 001757-9796Epilepsy, juvenile idiopathicEquus caballushorse
OMIA 000348-9796Epitheliogenesis imperfectaEquus caballushorse
OMIA 001186-9796ErythrocytosisEquus caballushorse
OMIA 001286-9796Evans syndromeEquus caballushorse
OMIA 001896-9796Exercise-induced pulmonary hemorrhageEquus caballushorse
OMIA 000354-9796Exostosis, multipleEquus caballushorse
OMIA 000358-9796Eye defectsEquus caballushorse
OMIA 001983-9796Factors VIII, IX, and X, combined deficiency ofEquus caballushorse
OMIA 000366-9796Fanconi syndromeEquus caballushorse
OMIA 001578-9796Foal immunodeficiency syndrome in the Fell and Dales PonyEquus caballushorse SLC5A3 2011
OMIA 000392-9796Fragile siteEquus caballushorse
OMIA 001715-9796GaitednessEquus caballushorse LOC100147177 2012
OMIA 000411-9796Glaucoma, genericEquus caballushorse
OMIA 000416-9796Glucose-6-phosphate dehydrogenase deficiencyEquus caballushorse
OMIA 000420-9796Glycogen storage disease IVEquus caballushorse GBE1 2004
OMIA 000422-9796Glyoxalase II deficiencyEquus caballushorse
OMIA 001408-9796Guttural pouch tympanyEquus caballushorse
OMIA 001813-9796HaemangiosarcomaEquus caballushorse
OMIA 000428-9796HaemochromatosisEquus caballushorse
OMIA 000434-9796Haemolytic anaemia, primary autoimmuneEquus caballushorse
OMIA 000437-9796Haemophilia AEquus caballushorse
OMIA 000438-9796Haemophilia BEquus caballushorse
OMIA 000446-9796Heart defect, congenitalEquus caballushorse
OMIA 000448-9796Heels, contractedEquus caballushorse
OMIA 001968-9796Height, HMGA2 associated body size variationEquus caballushorse
OMIA 000459-9796Hernia, diaphragmaticEquus caballushorse
OMIA 000462-9796Hernia, inguinalEquus caballushorse
OMIA 000464-9796Hernia, scrotalEquus caballushorse
OMIA 000465-9796Hernia, umbilicalEquus caballushorse
OMIA 000466-9796Hernia, ventralEquus caballushorse
OMIA 000478-9796HoloprosencephalyEquus caballushorse
OMIA 001897-9796Hoof wall separation syndromeEquus caballushorse SERPINB11 2015
OMIA 000480-9796Hoof, flatEquus caballushorse
OMIA 001197-9796Horner syndromeEquus caballushorse
OMIA 002053-9796HydrallantoisEquus caballushorse
OMIA 000487-9796HydrocephalusEquus caballushorse B3GALNT2 2015
OMIA 001107-9796Hymen, imperforateEquus caballushorse
OMIA 000494-9796HyperadrenocorticismEquus caballushorse
OMIA 000496-9796Hyperbilirubinaemia IEquus caballushorse
OMIA 000495-9796Hyperbilirubinaemia, unclassifiedEquus caballushorse
OMIA 000502-9796Hypereosinophilic syndromeEquus caballushorse
OMIA 000785-9796Hyperkalemic Periodic Paralysis, HYPPEquus caballushorse SCN4A 1992
OMIA 001160-9796HyperlipidaemiaEquus caballushorse
OMIA 001210-9796HyperlipoproteinaemiaEquus caballushorse
OMIA 001290-9796Hyperornithinemia, hyperammonemia, and homocitrullinuria syndromeEquus caballushorse
OMIA 000508-9796HyperparathyroidismEquus caballushorse
OMIA 000511-9796HyperthyroidismEquus caballushorse
OMIA 000519-9796HypoadrenocorticismEquus caballushorse
OMIA 000528-9796HypoparathyroidismEquus caballushorse
OMIA 001187-9796HypospadiasEquus caballushorse
OMIA 000536-9796HypothyroidismEquus caballushorse
OMIA 000554-9796Immunoglobulin G deficiencyEquus caballushorse
OMIA 000556-9796Immunoglobulin M deficiencyEquus caballushorse
OMIA 001762-9796Impaired acrosomal reactionEquus caballushorse
OMIA 001770-9796Impaired balanceEquus caballushorse
OMIA 001899-9796Incontinentia pigmentiEquus caballushorse IKBKG 2013
OMIA 001664-9796Insect bite hypersensitivityEquus caballushorse
OMIA 000564-9796IntersexEquus caballushorse
OMIA 001227-9796IntussusceptionEquus caballushorse
OMIA 001287-9796KeratitisEquus caballushorse
OMIA 000576-9796Knobbed acrosomeEquus caballushorse
OMIA 000579-9796LamenessEquus caballushorse
OMIA 001225-9796LaminitisEquus caballushorse
OMIA 001206-9796Laryngeal paralysisEquus caballushorse
OMIA 001501-9796Lavender foal syndromeEquus caballushorse MYO5A 2010
OMIA 000604-9796Linear epidermal neviEquus caballushorse
OMIA 001924-9796LordosisEquus caballushorse
OMIA 001189-9796LymphangiectasiaEquus caballushorse
OMIA 000613-9796LymphoedemaEquus caballushorse
OMIA 000621-9796Malignant hyperthermiaEquus caballushorse RYR1 2004
OMIA 001217-9796Meckel diverticulumEquus caballushorse
OMIA 002144-9796Medetomidine insensitivityEquus caballushorse
OMIA 000629-9796MegacolonEquus caballushorse EDNRB 1998
OMIA 000631-9796MegaoesophagusEquus caballushorse
OMIA 001898-9796Metabolic syndromeEquus caballushorse
OMIA 000659-9796MonorchidismEquus caballushorse
OMIA 000662-9796Motor neuron disease, lowerEquus caballushorse
OMIA 001457-9796Multiple acyl-CoA dehydrogenase deficiencyEquus caballushorse
OMIA 000733-9796Multiple ocular defectsEquus caballushorse PMEL 2011
OMIA 001109-9796Mycosis fungoidesEquus caballushorse
OMIA 001163-9796Myeloencephalopathy, degenerative Equus caballushorse
OMIA 001120-9796Myelopathy, fibrocartilaginous embolicEquus caballushorse
OMIA 000689-9796MyoclonusEquus caballushorse
OMIA 002141-9796Myositis, immune-mediatedEquus caballushorse MYH1 2018
OMIA 000698-9796MyotoniaEquus caballushorse CLCN1 2012
OMIA 002096-9796Naked foal syndromeEquus caballushorse ST14 2017
OMIA 000703-9796NarcolepsyEquus caballushorse
OMIA 000704-9796Navicular diseaseEquus caballushorse
OMIA 000715-9796Neuroaxonal dystrophy, genericEquus caballushorse
OMIA 000720-9796Neurological syndromeEquus caballushorse
OMIA 000181-9796Neuronal Ceroid Lipofuscinosis, genericEquus caballushorse
OMIA 001341-9796Night blindness, congenital stationaryEquus caballushorse TRPM1 2011
OMIA 000735-9796Ocular squamous cell carcinomaEquus caballushorse DDB2 2017
OMIA 000741-9796OmphaloceleEquus caballushorse
OMIA 000747-9796OsteoarthritisEquus caballushorse
OMIA 000748-9796Osteochondritis dissecansEquus caballushorse
OMIA 001214-9796OsteochondromatosisEquus caballushorse
OMIA 000750-9796OsteochondrosisEquus caballushorse
OMIA 000755-9796OsteopetrosisEquus caballushorse
OMIA 000105-9796OsteoporosisEquus caballushorse
OMIA 001277-9796Otitis interna, susceptibility toEquus caballushorse
OMIA 001266-9796Otitis media, susceptibility toEquus caballushorse
OMIA 001230-9796Ovotesticular DSD (Disorder of Sexual Development)Equus caballushorse SRY 1995
OMIA 001307-9796Palmar/plantar osteochondral fragmentsEquus caballushorse
OMIA 001147-9796Papillomatosis, cutaneousEquus caballushorse
OMIA 000777-9796Patella dislocationEquus caballushorse
OMIA 000779-9796Patent ductus arteriosusEquus caballushorse
OMIA 001188-9796PemphigusEquus caballushorse
OMIA 001857-9796Pentalogy of FallotEquus caballushorse
OMIA 000789-9796Perosomus elumbisEquus caballushorse
OMIA 000794-9796Persistent right aortic archEquus caballushorse
OMIA 000795-9796Persistent truncus arteriosusEquus caballushorse
OMIA 000807-9796Polycystic kidney diseaseEquus caballushorse
OMIA 000810-9796PolydactylyEquus caballushorse
OMIA 001537-9796Polysaccharide storage myopathy, type 2Equus caballushorse
OMIA 001158-9796Polysaccharide storage myopathy/Exertional rhabdomyolysisEquus caballushorse GYS1 2008
OMIA 000817-9796Portosystemic shuntEquus caballushorse
OMIA 000819-9796Prekallikrein deficiencyEquus caballushorse
OMIA 000823-9796PrognathismEquus caballushorse
OMIA 000835-9796Protein C deficiencyEquus caballushorse
OMIA 001205-9796Pseudocholinesterase deficiencyEquus caballushorse
OMIA 001538-9796Racing distanceEquus caballushorse
OMIA 001456-9796Recurrent airway obstructionEquus caballushorse
OMIA 001872-9796Recurrent uveitisEquus caballushorse
OMIA 001135-9796Renal dysplasiaEquus caballushorse
OMIA 000334-9796Resistance to encephalomyelitisEquus caballushorse
OMIA 001925-9796Resistance/susceptibility to arteritis virusEquus caballushorse
OMIA 001873-9796Response to trainingEquus caballushorse
OMIA 000866-9796Retinal degenerationEquus caballushorse
OMIA 000275-9796Retinal detachmentEquus caballushorse
OMIA 000888-9796SarcoidEquus caballushorse
OMIA 000890-9796Schistosomus reflexusEquus caballushorse
OMIA 000891-9796ScoliosisEquus caballushorse
OMIA 001161-9796Self-mutilation syndromeEquus caballushorse
OMIA 000220-9796Severe combined immunodeficiency disease, autosomalEquus caballushorse PRKDC 1997
OMIA 001601-9796Sex reversal: XY female, SRY-positiveEquus caballushorse
OMIA 000676-9796ShiversEquus caballushorse
OMIA 001102-9796Situs inversusEquus caballushorse
OMIA 002013-9796Skeletal atavismEquus caballushorse SHOX 2016
OMIA 000950-9796StringhaltEquus caballushorse
OMIA 000958-9796Summer soresEquus caballushorse
OMIA 001816-9796Superficial digital flexor tendon injury Equus caballushorse
OMIA 001174-9796Synovial chondromatosisEquus caballushorse
OMIA 000965-9796SyringomyeliaEquus caballushorse
OMIA 000990-9796Tendons, contracted, congenitalEquus caballushorse
OMIA 001535-9796Testicular regression syndromeEquus caballushorse
OMIA 000994-9796Tetralogy of fallotEquus caballushorse
OMIA 001000-9796ThrombastheniaEquus caballushorse ITGA2B 2006
OMIA 001001-9796ThrombocytopeniaEquus caballushorse
OMIA 001013-9796TorticollisEquus caballushorse
OMIA 001022-9796TwinningEquus caballushorse
OMIA 001033-9796UrolithiasisEquus caballushorse
OMIA 001036-9796Uterus bicollisEquus caballushorse
OMIA 001041-9796Ventricular septal defectEquus caballushorse
OMIA 001042-9796Ventricular septal defect and atrial fibrillationEquus caballushorse
OMIA 001971-9796Ventricular septal defect and quadricuspid aortic valveEquus caballushorse
OMIA 001055-9796VitiligoEquus caballushorse
OMIA 001339-9796Von Willebrand disease IIEquus caballushorse
OMIA 001056-9796Von Willebrand disease, genericEquus caballushorse
OMIA 001076-9796WryneckEquus caballushorse
OMIA 000901-9796XX testicular DSD (Disorder of Sexual Development)Equus caballushorse
OMIA 001079-9796Yellow fatEquus caballushorse