Retinitis pigmentosa 20

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.

Also known as retinitis pigmentosa 20, retinitis pigmentosa caused by mutation in RPE65, retinitis pigmentosa type 20, RP20, RPE65 retinitis pigmentosa — per MONDO

Also identified as

• DOID 0110353 per MONDO
• MESH C566718 per MONDO
• OMIM 613794 per MONDO
• UMLS C3151086 per MONDO