Epiphyseal dysplasia, multiple, 3

Definition

Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.

Also known as COL9A3 multiple epiphyseal dysplasia (disease), epiphyseal dysplasia, multiple, 3, epiphyseal dysplasia, multiple, 3, with or without myopathy, epiphyseal dysplasia, multiple, type 3, multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3 — per MONDO

Also identified as

• DOID 0070304 per MONDO
• MESH C535503 per MONDO
• OMIM 600969 per MONDO
• UMLS C1832998 per MONDO