Retinitis pigmentosa 74

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.

Also known as BBS2 retinitis pigmentosa, retinitis pigmentosa 74, retinitis pigmentosa caused by mutation in BBS2, retinitis pigmentosa type 74, RP74 — per MONDO

Also identified as

• DOID 0110401 per MONDO
• OMIM 616562 per MONDO
• UMLS C4225281 per MONDO