Retinitis pigmentosa 43

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.

Also known as PDE6A retinitis pigmentosa, retinitis pigmentosa 43, retinitis pigmentosa caused by mutation in PDE6A, retinitis pigmentosa type 43, RP43 — per MONDO

Also identified as

• DOID 0110379 per MONDO
• OMIM 613810 per MONDO
• UMLS C3151139 per MONDO