Leber congenital amaurosis 6

Definition

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.

Also known as LCA6, Leber congenital amaurosis 6, Leber congenital amaurosis caused by mutation in RPGRIP1, Leber congenital amaurosis type 6, RPGRIP1 Leber congenital amaurosis — per MONDO

Also identified as

• DOID 0110329 per MONDO
• MESH C565327 per MONDO
• OMIM 613826 per MONDO
• UMLS C1854260 per MONDO