Retinitis pigmentosa 57

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene.

Also known as PDE6G retinitis pigmentosa, retinitis pigmentosa 57, retinitis pigmentosa caused by mutation in PDE6G, retinitis pigmentosa type 57, RP57 — per MONDO

Also identified as

• DOID 0110407 per MONDO
• OMIM 613582 per MONDO
• UMLS C3150821 per MONDO