Retinitis pigmentosa 50

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.

Also known as BEST1 retinitis pigmentosa, retinitis pigmentosa 50, retinitis pigmentosa caused by mutation in BEST1, retinitis pigmentosa type 50, retinitis pigmentosa-50, RP50 — per MONDO

Also identified as

• DOID 0110396 per MONDO
• MESH C567712 per MONDO
• OMIM 613194 per MONDO
• UMLS C2750789 per MONDO