Retinitis pigmentosa 76

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.

Also known as POMGNT1 retinitis pigmentosa, retinitis pigmentosa 76, retinitis pigmentosa 76; RP76, retinitis pigmentosa caused by mutation in POMGNT1, retinitis pigmentosa type 76, RP76 — per MONDO

Also identified as

• DOID 0061103 per MONDO
• OMIM 617123 per MONDO
• UMLS C4310704 per MONDO