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90 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:001926-9913 | Achondrogenesis, type II | Bos taurus | taurine cattle | COL2A1 | 2014 | 2025-10-09 |
| OMIA:000004-9913 | Achondroplasia | Bos taurus | taurine cattle | 2023-08-19 | ||
| OMIA:000005-9913 | Achondroplasia foetalis | Bos taurus | taurine cattle | 2011-10-06 | ||
| OMIA:002297-9913 | Amelia, RSPO2-related | Bos taurus | taurine cattle | RSPO2 | 2020 | 2025-04-15 |
| OMIA:000047-9913 | Ankylosis, generalised | Bos taurus | taurine cattle | 2011-03-18 | ||
| OMIA:001556-9913 | Ankylosis, jaw | Bos taurus | taurine cattle | 2011-03-18 | ||
| OMIA:003021-9913 | Arachnomelia, generic | Bos taurus | taurine cattle | 2025-10-10 | ||
| OMIA:001541-9913 | Arachnomelia, MOCS1-related | Bos taurus | taurine cattle | MOCS1 | 2011 | 2022-09-14 |
| OMIA:000059-9913 | Arachnomelia, SUOX-related | Bos taurus | taurine cattle | SUOX | 2010 | 2022-09-14 |
| OMIA:000070-9913 | Arthrogryposis and palatoschisis syndrome | Bos taurus | taurine cattle | 2023-10-08 | ||
| OMIA:002135-9913 | Arthrogryposis multiplex congenita, AGRN-related | Bos taurus | taurine cattle | AGRN | 2011 | 2025-02-23 |
| OMIA:001465-9913 | Arthrogryposis multiplex congenita, generic | Bos taurus | taurine cattle | 2017-12-15 | ||
| OMIA:000069-9913 | Arthrogryposis, generic | Bos taurus | taurine cattle | 2005-09-06 | ||
| OMIA:001953-9913 | Arthrogryposis, lethal syndrome | Bos taurus | taurine cattle | PIGH | 2015 | 2015-04-19 |
| OMIA:001858-9913 | Bone fracture risk | Bos taurus | taurine cattle | 2024-02-12 | ||
| OMIA:000147-9913 | Brachygnathia | Bos taurus | taurine cattle | 2024-02-08 | ||
| OMIA:000149-9913 | Brachygnathia superior | Bos taurus | taurine cattle | 2005-09-06 | ||
| OMIA:000150-9913 | Brachygnathia superior and degenerative joint disease | Bos taurus | taurine cattle | 2020-12-04 | ||
| OMIA:002759-9913 | Brachygnathia, WNT10B-related | Bos taurus | taurine cattle | WNT10B | 2023 | 2023-08-30 |
| OMIA:000151-9913 | Brachyspina | Bos taurus | taurine cattle | FANCI | 2012 | 2015-03-24 |
| OMIA:001502-9913 | Caprine-like generalized hypoplasia syndrome | Bos taurus | taurine cattle | CEP250 | 2015 | 2018-01-25 |
| OMIA:003020-9913 | Caudal and thoracic vertebral and viscerocranial malformation, SLC40A1-related | Bos taurus | taurine cattle | SLC40A1 | 2025 | 2025-10-10 |
| OMIA:002540-9913 | Chondrodysplasia, EVC2-related | Bos taurus | taurine cattle | EVC2 | 2002 | 2023-11-05 |
| OMIA:001703-9913 | Chondrodysplasia, FGFR3-related | Bos taurus | taurine cattle | FGFR3 | 2020 | 2024-06-18 |
| OMIA:000187-9913 | Chondrodysplasia, generic | Bos taurus | taurine cattle | 2024-02-08 | ||
| OMIA:000189-9913 | Chondrodystrophy | Bos taurus | taurine cattle | 2005-09-06 | ||
| OMIA:002590-9913 | Cleft palate, MYH3-related | Bos taurus | taurine cattle | MYH3 | 2022 | 2023-05-04 |
| OMIA:002970-9913 | Cleft palate, syndromic, WDR33-related | Bos taurus | taurine cattle | WDR33 | 2025 | 2025-06-19 |
| OMIA:001340-9913 | Complex vertebral malformation | Bos taurus | taurine cattle | SLC35A3 | 2006 | 2024-09-06 |
| OMIA:001814-9913 | Congenital chondrodystrophy of unknown origin | Bos taurus | taurine cattle | 2013-05-22 | ||
| OMIA:003022-9913 | Craniofacial dysplasia-hydrocephalus-dwarfism syndrome | Bos taurus | taurine cattle | 2025-10-10 | ||
| OMIA:000237-9913 | Cranioschisis | Bos taurus | taurine cattle | 2023-11-21 | ||
| OMIA:001271-9913 | Dwarfism, ACAN-related | Bos taurus | taurine cattle | ACAN | 2007 | 2025-06-24 |
| OMIA:002596-9913 | Dwarfism, ANKRD28-related | Bos taurus | taurine cattle | 2022-11-16 | ||
| OMIA:001659-9913 | Dwarfism, dominant | Bos taurus | taurine cattle | 2024-11-12 | ||
| OMIA:000299-9913 | Dwarfism, generic | Bos taurus | taurine cattle | 2025-10-10 | ||
| OMIA:001323-9913 | Dwarfism, GHR-related | Bos taurus | taurine cattle | 2005-09-06 | ||
| OMIA:001985-9913 | Dwarfism, GON4L-related | Bos taurus | taurine cattle | GON4L | 2016 | 2021-09-16 |
| OMIA:001473-9913 | Dwarfism, growth-hormone deficiency | Bos taurus | taurine cattle | 2023-10-16 | ||
| OMIA:001294-9913 | Dwarfism, growth-hormone-receptor deficiency | Bos taurus | taurine cattle | 2013-08-05 | ||
| OMIA:003012-9913 | Dwarfism, primordial disproportionate with craniofacial dysmorphism, PDGFRA-related | Bos taurus | taurine cattle | PDGFRA | 2025 | 2025-10-10 |
| OMIA:003013-9913 | Dwarfism, primordial disproportionate, PRDM10-related | Bos taurus | taurine cattle | PRDM10 | 2025 | 2025-10-10 |
| OMIA:001485-9913 | Dwarfism, PRKG2-related | Bos taurus | taurine cattle | PRKG2 | 2009 | 2024-06-18 |
| OMIA:000308-9913 | Dwarfism, proportionate | Bos taurus | taurine cattle | 2020-09-14 | ||
| OMIA:001686-9913 | Dwarfism, proportionate, with inflammatory lesions | Bos taurus | taurine cattle | RNF11 | 2012 | 2017-07-11 |
| OMIA:000310-9913 | Dwarfism, snorter | Bos taurus | taurine cattle | 2011-09-16 | ||
| OMIA:000311-9913 | Dwarfism, stumpy | Bos taurus | taurine cattle | 2011-10-17 | ||
| OMIA:003024-9913 | Dyplasias with multiple joint dislocations | Bos taurus | taurine cattle | 2025-10-21 | ||
| OMIA:002090-9913 | Facial dysplasia syndrome | Bos taurus | taurine cattle | FGFR2 | 2017 | 2017-08-09 |
| OMIA:002307-9913 | Frontonasal dysplasia, ZIC2-related | Bos taurus | taurine cattle | ZIC2 | 2021 | 2021-01-24 |
| OMIA:001690-9913 | Hemifacial microsomia, generic | Bos taurus | taurine cattle | 2025-10-21 | ||
| OMIA:002479-9913 | Hemifacial microsomia, LAMB1-related | Bos taurus | taurine cattle | LAMB1 | 2022 | 2025-10-21 |
| OMIA:001009-9913 | Hemimelia, tibial | Bos taurus | taurine cattle | ALX4 | 2012 | 2024-09-23 |
| OMIA:001191-9913 | Hemivertebrae | Bos taurus | taurine cattle | 2005-09-06 | ||
| OMIA:000473-9913 | Hip dysplasia | Bos taurus | taurine cattle | 2005-09-06 | ||
| OMIA:000157-9913 | Intervertebral disc disease | Bos taurus | taurine cattle | 2023-10-02 | ||
| OMIA:000570-9913 | Joint laxity and dwarfism, congenital | Bos taurus | taurine cattle | 2005-09-06 | ||
| OMIA:000585-9913 | Leg weakness | Bos taurus | taurine cattle | 2020-12-04 | ||
| OMIA:001722-9913 | Lethal multi-organ developmental dysplasia | Bos taurus | taurine cattle | KDM2B | 2012 | 2023-10-08 |
| OMIA:002288-9913 | Mandibulofacial dysostosis | Bos taurus | taurine cattle | CYP26C1 | 2020 | 2020-10-23 |
| OMIA:000628-9913 | Marfan syndrome | Bos taurus | taurine cattle | FBN1 | 2005 | 2016-08-15 |
| OMIA:000656-9913 | Molars, impacted | Bos taurus | taurine cattle | 2022-10-29 | ||
| OMIA:000675-9913 | Muscle contracture and chondrodysplasia | Bos taurus | taurine cattle | 2011-10-26 | ||
| OMIA:000747-9913 | Osteoarthritis | Bos taurus | taurine cattle | 2005-09-06 | ||
| OMIA:002902-9913 | Osteochondrodysplastic and cardiomyopathic syndrome | Bos taurus | taurine cattle | 2024-11-12 | ||
| OMIA:000750-9913 | Osteochondrosis | Bos taurus | taurine cattle | 2005-09-06 | ||
| OMIA:000753-9913 | Osteodystrophy | Bos taurus | taurine cattle | 2005-09-06 | ||
| OMIA:002112-9913 | Osteogenesis imperfecta, COL1A2-related | Bos taurus | taurine cattle | COL1A2 | 2025 | 2025-10-09 |
| OMIA:000754-9913 | Osteogenesis imperfecta, generic | Bos taurus | taurine cattle | 2025-10-09 | ||
| OMIA:002127-9913 | Osteogenesis imperfecta, type II, COL1A1-related | Bos taurus | taurine cattle | COL1A1 | 2017 | 2024-05-23 |
| OMIA:000755-9913 | Osteopetrosis | Bos taurus | taurine cattle | 2023-10-08 | ||
| OMIA:001887-9913 | Osteopetrosis with gingival hamartomas | Bos taurus | taurine cattle | CLCN7 | 2014 | 2021-08-17 |
| OMIA:003019-9913 | Osteopetrosis, DCAF12L2-related | Bos taurus | taurine cattle | LOC112445140 | 2025 | 2025-10-09 |
| OMIA:002443-9913 | Osteopetrosis, SLC4A2-related | Bos taurus | taurine cattle | SLC4A2 | 2010 | 2021-09-28 |
| OMIA:001736-9913 | Polled and multisystemic syndrome | Bos taurus | taurine cattle | ZEB2 | 2012 | 2022-05-22 |
| OMIA:000810-9913 | Polydactyly | Bos taurus | taurine cattle | 2025-10-10 | ||
| OMIA:000823-9913 | Prognathism | Bos taurus | taurine cattle | 2011-10-30 | ||
| OMIA:002958-9913 | Rhizomelic chondrodysplasia punctata, GNPAT-related | Bos taurus | taurine cattle | GNPAT | 2024 | 2025-05-22 |
| OMIA:002973-9913 | Rhizomelic chondrodysplasia punctata, PEX7-related | Bos taurus | taurine cattle | 2025-07-29 | ||
| OMIA:002364-9913 | Rickets, generic | Bos taurus | taurine cattle | 2025-10-09 | ||
| OMIA:000911-9913 | Short spine | Bos taurus | taurine cattle | 2011-03-18 | ||
| OMIA:000917-9913 | Skeletal deformity | Bos taurus | taurine cattle | 2020-12-04 | ||
| OMIA:002625-9913 | Skeletal dysplasia, FGD3-related | Bos taurus | taurine cattle | FGD3 | 2015 | 2023-02-17 |
| OMIA:002381-9913 | Skeletal-cardio-enteric dysplasia, MAP2K2-related | Bos taurus | taurine cattle | MAP2K2 | 2021 | 2021-08-11 |
| OMIA:000938-9913 | Spinal dysraphism | Bos taurus | taurine cattle | 2005-09-06 | ||
| OMIA:000947-9913 | Stenosis, spinal | Bos taurus | taurine cattle | 2005-09-06 | ||
| OMIA:000963-9913 | Syndactyly | Bos taurus | taurine cattle | LRP4 | 2006 | 2025-10-21 |
| OMIA:001452-9913 | Tail, crooked | Bos taurus | taurine cattle | MRC2 | 2009 | 2023-10-08 |
| OMIA:000975-9913 | Tail, short | Bos taurus | taurine cattle | 2005-09-06 | ||
| OMIA:001951-9913 | Vertebral and spinal dysplasia | Bos taurus | taurine cattle | TBXT | 2015 | 2020-05-23 |