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80 phene records found

[show instead gene records]

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OMIA ID Phene Species Scientific Name Species Common Name Gene Year Key Mutation First Reported Date Last Modified
OMIA:002317-9986 Abnormal gait, retinal dysplasia, cataracts, RORB-related Oryctolagus cuniculus rabbit RORB 2021 2022-10-31
OMIA:000017-9986 Adrenal insufficiency, congenital, CYP11A1-related Oryctolagus cuniculus rabbit CYP11A1 1993 2023-09-29
OMIA:002007-9986 Agenesis, renal Oryctolagus cuniculus rabbit 2016-05-03
OMIA:001243-9986 Alkaptonuria Oryctolagus cuniculus rabbit 2018-05-31
OMIA:002600-9986 Amelogenesis imperfecta, FAM83H-related Oryctolagus cuniculus rabbit FAM83H 2022 2023-12-18
OMIA:001551-9986 Brachycephaly Oryctolagus cuniculus rabbit 2024-03-06
OMIA:000155-9986 C3 deficiency Oryctolagus cuniculus rabbit 2005-07-16
OMIA:001624-9986 C6 deficiency Oryctolagus cuniculus rabbit 2011-10-11
OMIA:000156-9986 C8 deficiency Oryctolagus cuniculus rabbit 2013-06-17
OMIA:000162-9986 Cardiomyopathy, dilated Oryctolagus cuniculus rabbit 2009-10-27
OMIA:002212-9986 Cardiomyopathy, hypertrophic, MYH7-related Oryctolagus cuniculus rabbit 2021-04-21
OMIA:002331-9986 Cardiomyopathy, TNNI3-related Oryctolagus cuniculus rabbit 2021-04-21
OMIA:002308-9986 Cardiomyopathy, X-linked dilated Oryctolagus cuniculus rabbit 2021-01-28
OMIA:002735-9986 Cataract, GJA8-related Oryctolagus cuniculus rabbit GJA8 2016 2023-12-18
OMIA:002394-9986 Cleft lip, GADD45G-related Oryctolagus cuniculus rabbit 2023-12-18
OMIA:000197-9986 Cleft palate Oryctolagus cuniculus rabbit 2005-09-06
OMIA:000201-9986 Coat colour, agouti Oryctolagus cuniculus rabbit ASIP 2010 2023-03-06
OMIA:001249-9986 Coat colour, brown, TYRP1-related Oryctolagus cuniculus rabbit TYRP1 2014 2023-03-06
OMIA:000031-9986 Coat colour, dilution, MLPH-related Oryctolagus cuniculus rabbit MLPH 2013 2023-03-06
OMIA:000209-9986 Coat colour, dominant white Oryctolagus cuniculus rabbit 2022-10-28
OMIA:001199-9986 Coat colour, extension Oryctolagus cuniculus rabbit MC1R 2006 2023-03-06
OMIA:000202-9986 Coat colour, oculocutaneous albinism type I (OCA1), TYR-related Oryctolagus cuniculus rabbit TYR 2000 2023-03-06
OMIA:001168-9986 Coronal suture synostosis Oryctolagus cuniculus rabbit 2005-09-06
OMIA:001224-9986 Craniosynostosis Oryctolagus cuniculus rabbit 2021-08-22
OMIA:001794-9986 Cystic fibrosis Oryctolagus cuniculus rabbit CFTR 2020 2024-02-21
OMIA:000279-9986 Diabetes mellitus Oryctolagus cuniculus rabbit 2023-12-10
OMIA:001709-9986 Difference of sexual development, DMRT1-related Oryctolagus cuniculus rabbit DMRT1 2023 2023-12-18
OMIA:000312-9986 Dysautonomia Oryctolagus cuniculus rabbit 2005-09-06
OMIA:002157-9986 Ectodermal dysplasia-9 Oryctolagus cuniculus rabbit HOXC13 2019 2023-12-10
OMIA:000327-9986 Ehlers-Danlos syndrome, generic Oryctolagus cuniculus rabbit 2005-07-16
OMIA:000344-9986 Epilepsy Oryctolagus cuniculus rabbit 2016-04-29
OMIA:002687-9986 Fleece variation (fine vs coarse) Oryctolagus cuniculus rabbit 2024-04-07
OMIA:001528-9986 Fleece variation (woolly vs hairy) Oryctolagus cuniculus rabbit 2023-10-16
OMIA:001461-9986 Gangliosidosis, GM2, type I (B variant) Oryctolagus cuniculus rabbit 2013-05-03
OMIA:000411-9986 Glaucoma, generic Oryctolagus cuniculus rabbit 2022-09-17
OMIA:000439-9986 Hair, long Oryctolagus cuniculus rabbit FGF5 2023 2023-11-15
OMIA:000459-9986 Hernia, diaphragmatic Oryctolagus cuniculus rabbit 2011-10-18
OMIA:000473-9986 Hip dysplasia Oryctolagus cuniculus rabbit 2016-04-29
OMIA:000487-9986 Hydrocephalus Oryctolagus cuniculus rabbit 2016-04-29
OMIA:000493-9986 Hydrops foetalis Oryctolagus cuniculus rabbit 2016-04-29
OMIA:000499-9986 Hypercholesterolaemia Oryctolagus cuniculus rabbit 2023-12-10
OMIA:002329-9986 Hypercholesterolaemia, PCSK9-related Oryctolagus cuniculus rabbit 2023-12-18
OMIA:001160-9986 Hyperlipidaemia Oryctolagus cuniculus rabbit LDLR 1986 2013-05-17
OMIA:002490-9986 Hyperlipidaemia/atherosclerosis, APOC3-related Oryctolagus cuniculus rabbit 2023-12-18
OMIA:002063-9986 Hyperlipidaemia/atherosclerosis, APOE-related Oryctolagus cuniculus rabbit APOE 2016 2023-12-18
OMIA:000511-9986 Hyperthyroidism Oryctolagus cuniculus rabbit 2022-09-17
OMIA:001542-9986 Hypophosphatemic rickets, autosomal recessive, 1 Oryctolagus cuniculus rabbit 2023-12-18
OMIA:000540-9986 Hypotrichosis, generic Oryctolagus cuniculus rabbit 2005-09-06
OMIA:002334-9986 Long QT syndrome, KCNE1-related Oryctolagus cuniculus rabbit 2021-04-21
OMIA:002333-9986 Long QT syndrome, KCNH2-related Oryctolagus cuniculus rabbit 2021-04-21
OMIA:002332-9986 Long QT syndrome, KCNQ1-related Oryctolagus cuniculus rabbit 2021-04-21
OMIA:000618-9986 Macrostomus Oryctolagus cuniculus rabbit 2005-09-06
OMIA:000621-9986 Malignant hyperthermia Oryctolagus cuniculus rabbit 2023-01-13
OMIA:000628-9986 Marfan syndrome Oryctolagus cuniculus rabbit FBN1 2018 2023-12-10
OMIA:000629-9986 Megacolon Oryctolagus cuniculus rabbit 2015-12-31
OMIA:002688-9986 Microcephaly, YIPF5-related Oryctolagus cuniculus rabbit YIPF5 2023 2023-12-18
OMIA:002242-9986 Muscular dystrophy, ANO5-related Oryctolagus cuniculus rabbit 2023-12-18
OMIA:000683-9986 Muscular hypertrophy (double muscling) Oryctolagus cuniculus rabbit 2023-12-12
OMIA:000715-9986 Neuroaxonal dystrophy, generic Oryctolagus cuniculus rabbit 2011-05-27
OMIA:001258-9986 Obesity Oryctolagus cuniculus rabbit 2005-09-06
OMIA:000753-9986 Osteodystrophy Oryctolagus cuniculus rabbit 2005-09-06
OMIA:000755-9986 Osteopetrosis Oryctolagus cuniculus rabbit 2016-04-29
OMIA:000783-9986 Pelger-Huet anomaly Oryctolagus cuniculus rabbit 2022-11-23
OMIA:000807-9986 Polycystic kidney disease Oryctolagus cuniculus rabbit 2011-05-27
OMIA:001213-9986 Premature senesence Oryctolagus cuniculus rabbit LMNA 2019 2024-01-18
OMIA:001566-9986 Rex coat Oryctolagus cuniculus rabbit LIPH 2011 2016-05-03
OMIA:002441-9986 Short QT syndrome, KCNH2-related Oryctolagus cuniculus rabbit 2023-12-18
OMIA:000933-9986 Spina bifida Oryctolagus cuniculus rabbit 2005-09-06
OMIA:000944-9986 Spongiform encephalopathy, susceptibility/resistance to Oryctolagus cuniculus rabbit 2020-05-15
OMIA:002067-9986 Syndactyly, type Ia Oryctolagus cuniculus rabbit 2016-10-30
OMIA:000965-9986 Syringomyelia Oryctolagus cuniculus rabbit 2016-05-03
OMIA:000985-9986 Teat / nipple, number Oryctolagus cuniculus rabbit 2021-01-13
OMIA:001013-9986 Torticollis Oryctolagus cuniculus rabbit 2022-10-29
OMIA:000770-9986 Tremor, X-linked Oryctolagus cuniculus rabbit PLP1 1994 2023-03-06
OMIA:002078-9986 Tyrosinaemia, type I Oryctolagus cuniculus rabbit 2023-12-18
OMIA:002624-9986 Usher syndrome, USH2A-related Oryctolagus cuniculus rabbit 2023-12-18
OMIA:001041-9986 Ventricular septal defect Oryctolagus cuniculus rabbit 2016-04-28
OMIA:001056-9986 Von Willebrand disease, generic Oryctolagus cuniculus rabbit 2005-09-06
OMIA:001230-9986 XY sex reversal, SRY-related Oryctolagus cuniculus rabbit SRY 2017 2023-12-18
OMIA:001079-9986 Yellow fat Oryctolagus cuniculus rabbit BCO2 2015 2023-03-06