Ullrich congenital muscular dystrophy 2

Definition

Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.

Also known as COL12A1 Ullrich congenital muscular dystrophy, Ullrich congenital muscular dystrophy 2, Ullrich congenital muscular dystrophy caused by mutation in COL12A1, Ullrich congenital muscular dystrophy type 2 — per MONDO

Also identified as

• DOID 0060948 per MONDO
• OMIM 616470 per MONDO
• UMLS C4225314 per MONDO