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114 phene records found

[show instead gene records]

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OMIA ID Phene Species Scientific Name Species Common NameGene Year Key Mutation First ReportedDate Last Modified
OMIA 002317-9986abnormal gait, retinal dysplasia, cataracts, RORB-relatedOryctolagus cuniculusrabbit RORB 2021 2021-04-06
OMIA 001996-9986Achondroplasia-1Oryctolagus cuniculusrabbit 2016-04-29
OMIA 001997-9986Achondroplasia-2Oryctolagus cuniculusrabbit 2016-05-03
OMIA 001999-9986AcrobatOryctolagus cuniculusrabbit 2016-04-29
OMIA 000017-9986Adrenal hyperplasia, congenitalOryctolagus cuniculusrabbit CYP11A1 1993 2012-01-22
OMIA 002007-9986Agenesis, renalOryctolagus cuniculusrabbit 2016-05-03
OMIA 001243-9986AlkaptonuriaOryctolagus cuniculusrabbit 2018-05-31
OMIA 000077-9986Ataxia, genericOryctolagus cuniculusrabbit 2016-04-29
OMIA 002000-9986Atropinesterase deficiencyOryctolagus cuniculusrabbit 2020-04-16
OMIA 000093-9986Audiogenic seizureOryctolagus cuniculusrabbit 2011-10-13
OMIA 000146-9986BrachydactylyOryctolagus cuniculusrabbit 2016-04-29
OMIA 000149-9986Brachygnathia superiorOryctolagus cuniculusrabbit 2021-08-22
OMIA 000155-9986C3 deficiencyOryctolagus cuniculusrabbit 2005-07-16
OMIA 001624-9986C6 deficiencyOryctolagus cuniculusrabbit 2011-10-11
OMIA 000156-9986C8 deficiencyOryctolagus cuniculusrabbit 2013-06-17
OMIA 000162-9986Cardiomyopathy, dilatedOryctolagus cuniculusrabbit 2009-10-27
OMIA 002212-9986Cardiomyopathy, hypertrophic, MYH7-relatedOryctolagus cuniculusrabbit 2021-04-21
OMIA 002331-9986Cardiomyopathy, TNNI3-relatedOryctolagus cuniculusrabbit 2021-04-21
OMIA 002308-9986Cardiomyopathy, X-linked dilatedOryctolagus cuniculusrabbit 2021-01-28
OMIA 000168-9986Cataract, genericOryctolagus cuniculusrabbit 2016-04-29
OMIA 000189-9986ChondrodystrophyOryctolagus cuniculusrabbit 2016-04-29
OMIA 002004-9986Chondrodystrophy with femoral luxationOryctolagus cuniculusrabbit 2016-05-03
OMIA 002394-9986Cleft lip, GADD45G-relatedOryctolagus cuniculusrabbit 2021-08-22
OMIA 000197-9986Cleft palateOryctolagus cuniculusrabbit 2005-09-06
OMIA 000201-9986Coat colour, agoutiOryctolagus cuniculusrabbit ASIP 2010 2020-04-13
OMIA 001249-9986Coat colour, brown, TYRP1-relatedOryctolagus cuniculusrabbit TYRP1 2014 2016-04-29
OMIA 002248-9986Coat colour, dilution, genericOryctolagus cuniculusrabbit 2021-04-09
OMIA 000031-9986Coat colour, dilution, MLPH-relatedOryctolagus cuniculusrabbit MLPH 2013 2021-04-09
OMIA 000209-9986Coat colour, dominant whiteOryctolagus cuniculusrabbit 2020-08-20
OMIA 001922-9986Coat colour, Dutch spottingOryctolagus cuniculusrabbit 2016-04-29
OMIA 001597-9986Coat colour, English spottingOryctolagus cuniculusrabbit 2022-01-18
OMIA 001199-9986Coat colour, extensionOryctolagus cuniculusrabbit MC1R 2006 2020-02-14
OMIA 000202-9986Coat colour, oculocutaneous albinism type I (OCA1), TYR-relatedOryctolagus cuniculusrabbit TYR 2000 2021-01-28
OMIA 002009-9986Coat colour, satinOryctolagus cuniculusrabbit 2016-05-03
OMIA 000200-9986Coat colours, genericOryctolagus cuniculusrabbit 2020-08-20
OMIA 000230-9986Corneal dystrophyOryctolagus cuniculusrabbit 2020-12-18
OMIA 001168-9986Coronal suture synostosisOryctolagus cuniculusrabbit 2005-09-06
OMIA 001224-9986CraniosynostosisOryctolagus cuniculusrabbit 2021-08-22
OMIA 001212-9986Curvature of distal forelegOryctolagus cuniculusrabbit 2016-04-29
OMIA 000249-9986CyclopiaOryctolagus cuniculusrabbit 2016-04-29
OMIA 000267-9986Delta 9-tetrahydrocannabinol seizureOryctolagus cuniculusrabbit 2011-09-15
OMIA 000279-9986Diabetes mellitusOryctolagus cuniculusrabbit 2020-08-10
OMIA 001998-9986Dwarfism, DahlemOryctolagus cuniculusrabbit 2016-04-28
OMIA 000299-9986Dwarfism, genericOryctolagus cuniculusrabbit HMGA2 2017 2022-05-24
OMIA 000312-9986DysautonomiaOryctolagus cuniculusrabbit 2005-09-06
OMIA 002157-9986Ectodermal dysplasia-9Oryctolagus cuniculusrabbit 2019-09-20
OMIA 000327-9986Ehlers-Danlos syndrome, genericOryctolagus cuniculusrabbit 2005-07-16
OMIA 000337-9986EntropionOryctolagus cuniculusrabbit 2018-06-13
OMIA 000344-9986EpilepsyOryctolagus cuniculusrabbit 2016-04-29
OMIA 001868-9986Eye, blueOryctolagus cuniculusrabbit 2013-08-16
OMIA 002008-9986Eye, redOryctolagus cuniculusrabbit 2016-05-03
OMIA 002002-9986FurlessOryctolagus cuniculusrabbit 2016-05-02
OMIA 002001-9986Furnishings (ears)Oryctolagus cuniculusrabbit 2016-04-29
OMIA 001461-9986Gangliosidosis, GM2, type I (B variant)Oryctolagus cuniculusrabbit 2013-05-03
OMIA 000411-9986Glaucoma, genericOryctolagus cuniculusrabbit 2016-04-29
OMIA 000439-9986Hair, longOryctolagus cuniculusrabbit 2021-10-26
OMIA 000459-9986Hernia, diaphragmaticOryctolagus cuniculusrabbit 2011-10-18
OMIA 000455-9986Hernia, genericOryctolagus cuniculusrabbit 2005-09-06
OMIA 000473-9986Hip dysplasiaOryctolagus cuniculusrabbit 2016-04-29
OMIA 000487-9986HydrocephalusOryctolagus cuniculusrabbit 2016-04-29
OMIA 000493-9986Hydrops foetalisOryctolagus cuniculusrabbit 2016-04-29
OMIA 000499-9986HypercholesterolaemiaOryctolagus cuniculusrabbit 2021-08-28
OMIA 001567-9986Hypercholesterolaemia, Kurosawa and KusanagiOryctolagus cuniculusrabbit 2011-05-27
OMIA 002329-9986Hypercholesterolemia, PCSK9-relatedOryctolagus cuniculusrabbit 2021-06-25
OMIA 001160-9986HyperlipidaemiaOryctolagus cuniculusrabbit LDLR 1986 2013-05-17
OMIA 002490-9986Hyperlipidaemia/atherosclerosis, APOC3-relatedOryctolagus cuniculusrabbit 2022-01-09
OMIA 002063-9986Hyperlipidaemia/atherosclerosis, APOE-relatedOryctolagus cuniculusrabbit APOE 2016 2021-11-03
OMIA 001542-9986Hypophosphatemic rickets, autosomal recessive, 1Oryctolagus cuniculusrabbit 2020-08-10
OMIA 000540-9986Hypotrichosis, genericOryctolagus cuniculusrabbit 2005-09-06
OMIA 000559-9986Imperforate anus with rectovaginal fistulaOryctolagus cuniculusrabbit 2005-09-06
OMIA 000583-9986Left ostium straightOryctolagus cuniculusrabbit 2011-10-24
OMIA 000585-9986Leg weaknessOryctolagus cuniculusrabbit 2021-04-09
OMIA 002334-9986Long QT syndrome, KCNE1-relatedOryctolagus cuniculusrabbit 2021-04-21
OMIA 002333-9986Long QT syndrome, KCNH2-relatedOryctolagus cuniculusrabbit 2021-04-21
OMIA 002332-9986Long QT syndrome, KCNQ1-relatedOryctolagus cuniculusrabbit 2021-04-21
OMIA 000615-9986LymphosarcomaOryctolagus cuniculusrabbit 2005-09-06
OMIA 000618-9986MacrostomusOryctolagus cuniculusrabbit 2005-09-06
OMIA 000621-9986Malignant hyperthermiaOryctolagus cuniculusrabbit 2005-09-06
OMIA 000629-9986MegacolonOryctolagus cuniculusrabbit 2015-12-31
OMIA 000674-9986Muscle contractureOryctolagus cuniculusrabbit 2016-04-29
OMIA 002242-9986Muscular dystrophy, ANO5-relatedOryctolagus cuniculusrabbit 2020-02-03
OMIA 000683-9986Muscular hypertrophy (double muscling)Oryctolagus cuniculusrabbit 2021-01-28
OMIA 000700-9986NakedOryctolagus cuniculusrabbit 2016-05-02
OMIA 001568-9986Narrow axisOryctolagus cuniculusrabbit 2011-05-27
OMIA 000715-9986Neuroaxonal dystrophy, genericOryctolagus cuniculusrabbit 2011-05-27
OMIA 001768-9986Non-specific digestive disorderOryctolagus cuniculusrabbit 2013-01-18
OMIA 001258-9986ObesityOryctolagus cuniculusrabbit 2005-09-06
OMIA 000753-9986OsteodystrophyOryctolagus cuniculusrabbit 2005-09-06
OMIA 000755-9986OsteopetrosisOryctolagus cuniculusrabbit 2016-04-29
OMIA 001230-9986Ovotesticular DSD (Disorder of Sexual Development)Oryctolagus cuniculusrabbit 2018-04-11
OMIA 000011-9986Paresis, posteriorOryctolagus cuniculusrabbit 2016-05-03
OMIA 000783-9986Pelger-Huet anomalyOryctolagus cuniculusrabbit 2020-05-26
OMIA 002003-9986Pelt-lossOryctolagus cuniculusrabbit 2016-05-02
OMIA 000807-9986Polycystic kidney diseaseOryctolagus cuniculusrabbit 2011-05-27
OMIA 001213-9986Premature senesenceOryctolagus cuniculusrabbit 2021-01-28
OMIA 001566-9986Rex coatOryctolagus cuniculusrabbit LIPH 2011 2016-05-03
OMIA 001994-9986Rex coat, plaice typeOryctolagus cuniculusrabbit 2016-05-03
OMIA 002005-9986Rex coat, r2 typeOryctolagus cuniculusrabbit 2016-05-03
OMIA 002006-9986Rex coat, r3 typeOryctolagus cuniculusrabbit 2016-05-03
OMIA 002441-9986Short QT syndrome, KCNH2-relatedOryctolagus cuniculusrabbit 2021-09-27
OMIA 002010-9986SilveringOryctolagus cuniculusrabbit 2016-05-03
OMIA 000933-9986Spina bifidaOryctolagus cuniculusrabbit 2005-09-06
OMIA 000944-9986Spongiform encephalopathy, susceptibility/resistance toOryctolagus cuniculusrabbit 2020-05-15
OMIA 002067-9986Syndactyly, type IaOryctolagus cuniculusrabbit 2016-10-30
OMIA 000965-9986SyringomyeliaOryctolagus cuniculusrabbit 2016-05-03
OMIA 000966-9986Systematic mitochondrial heteroplasmyOryctolagus cuniculusrabbit 2005-09-06
OMIA 000985-9986Teat / nipple numberOryctolagus cuniculusrabbit 2021-01-13
OMIA 000770-9986Tremor, X-linkedOryctolagus cuniculusrabbit PLP1 1994 2016-05-03
OMIA 002078-9986Tyrosinemia, type IOryctolagus cuniculusrabbit 2020-12-01
OMIA 001041-9986Ventricular septal defectOryctolagus cuniculusrabbit 2016-04-28
OMIA 001056-9986Von Willebrand disease, genericOryctolagus cuniculusrabbit 2005-09-06
OMIA 001076-9986WryneckOryctolagus cuniculusrabbit 2011-10-28
OMIA 001078-9986WuzzyOryctolagus cuniculusrabbit 2005-09-06
OMIA 001079-9986Yellow fatOryctolagus cuniculusrabbit BCO2 2015 2016-05-03