otospondylomegaepiphyseal dysplasia, autosomal recessive
Information
- Disease name
- otospondylomegaepiphyseal dysplasia, autosomal recessive
- Disease ID
- DOID:0080026
- Description
- "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." [url:http\://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia, url:http\://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia, url:http\://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm, url:http\://www.ncbi.nlm.nih.gov/omim/215150]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- MIM:215150
- Exact Synonym (Disease Ontology)
- CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS
- Exact Synonym (Disease Ontology)
- NANCE-INSLEY SYNDROME
- Exact Synonym (Disease Ontology)
- NANCE-SWEENEY CHONDRODYSPLASIA
- Exact Synonym (Disease Ontology)
- OSMEDB