Retinitis pigmentosa 73

Definition

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

Also known as HGSNAT retinitis pigmentosa, retinitis pigmentosa 73, retinitis pigmentosa caused by mutation in HGSNAT, retinitis pigmentosa type 73, RP73 — per MONDO

Also identified as

• DOID 0110389 per MONDO
• OMIM 616544 per MONDO
• UMLS C4225287 per MONDO