Metadata | |
---|---|
ID | DOID:0080677 |
Name | otospondylomegaepiphyseal dysplasia, autosomal dominant |
Definition | An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. https://pubmed.ncbi.nlm.nih.gov/15372529/ |
Xrefs | |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |