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otospondylomegaepiphyseal dysplasia, autosomal dominant
Summary
- Definition
- An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene.
- Super Class
- autosomal dominant disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0080677
- Mondo Disease Ontology
- OMIM
