Epiphyseal dysplasia, multiple, 6

Definition

Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.

Also known as COL9A1 multiple epiphyseal dysplasia (disease), epiphyseal dysplasia, multiple, 6, epiphyseal dysplasia, multiple, type 6, multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1 — per MONDO

Also identified as

• DOID 0070301 per MONDO
• OMIM 614135 per MONDO
• UMLS C2675767 per MONDO