Stickler syndrome, type 5

Definition

Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.

Also known as autosomal recessive Stickler syndrome caused by mutation in COL9A2, COL9A2 autosomal recessive Stickler syndrome — per MONDO

Also identified as

• OMIM 614284 per MONDO
• UMLS C3280342 per MONDO