otospondylomegaepiphyseal dysplasia
osteochondrodysplasia that results from mutations in the COL11A2 gene which results in enlargement of the located in epiphysis in located in hand and located in foot, distinct facial features, platyspondyly and hearing loss
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otospondylomegaepiphyseal dysplasia
Summary
otospondylomegaepiphyseal dysplasia is a developmental defect during embryogenesis[1].
Key Facts
- otospondylomegaepiphyseal dysplasia's instance of is recorded as developmental defect during embryogenesis[2].
- otospondylomegaepiphyseal dysplasia's instance of is recorded as rare disease[3].
- otospondylomegaepiphyseal dysplasia's instance of is recorded as class of disease[4].
- otospondylomegaepiphyseal dysplasia is a type of collagen hereditary disease[5].
- otospondylomegaepiphyseal dysplasia is a type of osteochondrodysplasia[6].
- otospondylomegaepiphyseal dysplasia is a type of type 2 collagen-related bone disorder[7].
- otospondylomegaepiphyseal dysplasia is a type of type 11 collagen-related bone disorder[8].
- otospondylomegaepiphyseal dysplasia is a type of autosomal recessive disease[9].
- otospondylomegaepiphyseal dysplasia's ICD-9-CM is recorded as 759.89[10].
- otospondylomegaepiphyseal dysplasia's health specialty is recorded as medical genetics[11].
- otospondylomegaepiphyseal dysplasia's genetic association is recorded as COL11A2[12].
- otospondylomegaepiphyseal dysplasia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080026[13].
- otospondylomegaepiphyseal dysplasia's exact match is recorded as http://identifiers.org/doid/DOID:0080026[14].
- otospondylomegaepiphyseal dysplasia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1427[15].
- otospondylomegaepiphyseal dysplasia's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].