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65 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:001996-9986 Achondroplasia-1 Oryctolagus cuniculus rabbit 2016-04-29
OMIA:001997-9986 Achondroplasia-2 Oryctolagus cuniculus rabbit 2024-09-03
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:002600-9986 Amelogenesis imperfecta, FAM83H-related Oryctolagus cuniculus rabbit FAM83H 2022 2023-12-18
OMIA:000077-9986 Ataxia, generic Oryctolagus cuniculus rabbit 2016-04-29
OMIA:000146-9986 Brachydactyly Oryctolagus cuniculus rabbit 2016-04-29
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:002212-9986 Cardiomyopathy, hypertrophic, MYH7-related Oryctolagus cuniculus rabbit 2021-04-21
OMIA:002331-9986 Cardiomyopathy, TNNI3-related Oryctolagus cuniculus rabbit 2024-10-18
OMIA:002308-9986 Cardiomyopathy, X-linked dilated Oryctolagus cuniculus rabbit 2021-01-28
OMIA:000168-9986 Cataract, generic Oryctolagus cuniculus rabbit 2022-09-17
OMIA:002735-9986 Cataract, GJA8-related Oryctolagus cuniculus rabbit GJA8 2016 2023-12-18
OMIA:002865-9986 Cerebral palsy, RHOB-related Oryctolagus cuniculus rabbit RHOB 2024 2024-08-11
OMIA:000189-9986 Chondrodystrophy Oryctolagus cuniculus rabbit 2016-04-29
OMIA:002394-9986 Cleft lip, GADD45G-related Oryctolagus cuniculus rabbit 2023-12-18
OMIA:001597-9986 Coat colour, English spotting Oryctolagus cuniculus rabbit 2022-10-28
OMIA:000202-9986 Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related Oryctolagus cuniculus rabbit TYR 2000 2023-03-06
OMIA:001224-9986 Craniosynostosis Oryctolagus cuniculus rabbit 2021-08-22
OMIA:001212-9986 Curvature of distal foreleg Oryctolagus cuniculus rabbit 2016-04-29
OMIA:000249-9986 Cyclopia Oryctolagus cuniculus rabbit 2016-04-29
OMIA:001794-9986 Cystic fibrosis Oryctolagus cuniculus rabbit CFTR 2020 2024-02-21
OMIA:000267-9986 Delta 9-tetrahydrocannabinol seizure Oryctolagus cuniculus rabbit 2022-10-13
OMIA:001709-9986 Difference of sexual development, DMRT1-related Oryctolagus cuniculus rabbit DMRT1 2023 2023-12-18
OMIA:001998-9986 Dwarfism, Dahlem Oryctolagus cuniculus rabbit 2024-09-03
OMIA:000299-9986 Dwarfism, generic Oryctolagus cuniculus rabbit HMGA2 2017 2023-03-06
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:002002-9986 Furless Oryctolagus cuniculus rabbit 2016-05-02
OMIA:000411-9986 Glaucoma, generic Oryctolagus cuniculus rabbit 2022-09-17
OMIA:000499-9986 Hypercholesterolaemia Oryctolagus cuniculus rabbit 2023-12-10
OMIA:001567-9986 Hypercholesterolaemia, Kurosawa and Kusanagi Oryctolagus cuniculus rabbit 2011-05-27
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:002063-9986 Hyperlipidaemia/atherosclerosis, APOE-related Oryctolagus cuniculus rabbit APOE 2016 2023-12-18
OMIA:002855-9986 Hypoxanthine guanine phosphoribosyltransferase deficiency Oryctolagus cuniculus rabbit 2024 2024-05-21
OMIA:000583-9986 Left ostium straight Oryctolagus cuniculus rabbit 2011-10-24
OMIA:002577-9986 Lethality, RYR2-related Oryctolagus cuniculus rabbit 2023-12-18
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:000615-9986 Lymphosarcoma Oryctolagus cuniculus rabbit 2005-09-06
OMIA:000618-9986 Macrostomus Oryctolagus cuniculus rabbit 2005-09-06
OMIA:000628-9986 Marfan syndrome Oryctolagus cuniculus rabbit FBN1 2018 2023-12-10
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:000700-9986 Naked Oryctolagus cuniculus rabbit 2016-05-02
OMIA:001568-9986 Narrow axis Oryctolagus cuniculus rabbit 2011-05-27
OMIA:000715-9986 Neuroaxonal dystrophy, generic Oryctolagus cuniculus rabbit 2011-05-27
OMIA:001962-9986 Neuronal ceroid lipofuscinosis, 7 Oryctolagus cuniculus rabbit MFSD8 2024 2024-05-09
OMIA:000755-9986 Osteopetrosis Oryctolagus cuniculus rabbit 2016-04-29
OMIA:000011-9986 Paresis, posterior Oryctolagus cuniculus rabbit 2016-05-03
OMIA:000783-9986 Pelger-Huet anomaly Oryctolagus cuniculus rabbit 2022-11-23
OMIA:002003-9986 Pelt-loss Oryctolagus cuniculus rabbit 2016-05-02
OMIA:001213-9986 Premature senesence Oryctolagus cuniculus rabbit LMNA 2019 2024-01-18
OMIA:002441-9986 Short QT syndrome, KCNH2-related Oryctolagus cuniculus rabbit 2023-12-18
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: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