Term Name: otospondylomegaepiphyseal dysplasia, autosomal dominant
Synonyms:
Definition: An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene.
Ontology: Human Disease [DOID:0080677]   ( DOID:0080677 )

Relationships
is a type of: autosomal dominant disease osteochondrodysplasia