otospondylomegaepiphyseal dysplasia, autosomal dominant

Term ID

DOID:0080677

Synonyms

Definition

An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. https://pubmed.ncbi.nlm.nih.gov/15372529/

References

• OMIM:184840

Ontology

Human Disease   ( DOID:0080677 )