otospondylomegaepiphyseal dysplasia, autosomal dominant
Information
- Disease name
- otospondylomegaepiphyseal dysplasia, autosomal dominant
- Disease ID
- DOID:0080677
- Description
- "An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene." [url:https\://pubmed.ncbi.nlm.nih.gov/15372529/]
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:184840