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| Term | otospondylomegaepiphyseal dysplasia, autosomal recessive | ID (Ontology) | DOID:0080026 (Human Disease) |
| Definition | An osteochondrodysplasia that results from mutations autosomal recessive inheritance of 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. | ||
| Also Known As | "CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS" ; "NANCE-INSLEY SYNDROME" ; "NANCE-SWEENEY CHONDRODYSPLASIA" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ bone development disease | |__osteochondrodysplasia________| cartilage disease | |__osteochondrodysplasia________| otospondylomegaepiphyseal dysplasia, autosomal recessive |
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| Is a |
autosomal recessive disease osteochondrodysplasia |
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| MIM:215150 | |||