Type 2 collagenopathy

Definition

Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.

Also known as COL2A1 disease or disorder, collagenopathy type 2 alpha 1, disease or disorder caused by mutation in COL2A1 — per MONDO

Also identified as

• MESH C535964 per MONDO
• Orphanet 93421 per MONDO
• UMLS C2931073 per MONDO