Retinitis pigmentosa 40

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.

Also known as PDE6B retinitis pigmentosa, retinitis pigmentosa 40, retinitis pigmentosa caused by mutation in PDE6B, retinitis pigmentosa type 40, retinitis pigmentosa-40, RP40 — per MONDO

Also identified as

• DOID 0110375 per MONDO
• OMIM 613801 per MONDO
• UMLS C3151107 per MONDO