Leber congenital amaurosis 1

Definition

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.

Also known as GUCY2D Leber congenital amaurosis, LCA1, Leber congenital amaurosis 1, Leber congenital amaurosis caused by mutation in GUCY2D, Leber congenital amaurosis type 1 — per MONDO

Also identified as

• DOID 0110078 per MONDO
• OMIM 204000 per MONDO
• UMLS C2931258 per MONDO