Retinitis pigmentosa 54

Definition

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

Also known as PCARE retinitis pigmentosa, retinitis pigmentosa 54, retinitis pigmentosa caused by mutation in PCARE, retinitis pigmentosa type 54, RP54 — per MONDO

Also identified as

• DOID 0110364 per MONDO
• OMIM 613428 per MONDO
• UMLS C3150691 per MONDO