DISEASES

Disease-gene associations mined from literature

Human genes for otospondylomegaepiphyseal dysplasia, autosomal dominant

Otospondylomegaepiphyseal dysplasia, autosomal dominant [DOID:0080677]

An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene.

Synonyms:  otospondylomegaepiphyseal dysplasia, autosomal dominant,  DOID:0080677,  autosomal dominant otospondylomegaepiphyseal dysplasia,  otospondylomegaepiphyseal dysplasia autosomal dominant,  autosomal dominant otospondylomegaepiphyseal dysplasias