| Metadata | |
|---|---|
| ID | DOID:0080026 |
| Name | otospondylomegaepiphyseal dysplasia, autosomal recessive |
| 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. http://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia, http://www.ncbi.nlm.nih.gov/omim/215150, http://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm, http://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia |
| Xrefs | |
| Synonyms |
CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS [EXACT] NANCE-INSLEY SYNDROME [EXACT] NANCE-SWEENEY CHONDRODYSPLASIA [EXACT] OSMEDB [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Platyspondyly has material basis in some autosomal recessive inheritance disease has location some epiphysis |