Fibrochondrogenesis 1

Definition

Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.

Also known as COL11A1 fibrochondrogenesis, fibrochondrogenesis 1, fibrochondrogenesis caused by mutation in COL11A1, fibrochondrogenesis type 1 — per MONDO

Also identified as

• DOID 0080672 per MONDO
• OMIM 228520 per MONDO
• UMLS C3278138 per MONDO