Leber congenital amaurosis 4

Definition

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.

Also known as AIPL1 Leber congenital amaurosis, LCA4, Leber congenital amaurosis 4, Leber congenital amaurosis caused by mutation in AIPL1, Leber congenital amaurosis type 4 — per MONDO

Also identified as

• DOID 0110332 per MONDO
• MESH C565778 per MONDO
• OMIM 604393 per MONDO
• UMLS C1858386 per MONDO