Leber congenital amaurosis 16

Definition

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.

Also known as KCNJ13 Leber congenital amaurosis, LCA16, Leber congenital amaurosis 16, Leber congenital amaurosis caused by mutation in KCNJ13, Leber congenital amaurosis type 16 — per MONDO

Also identified as

• DOID 0110118 per MONDO
• OMIM 614186 per MONDO
• UMLS C3280062 per MONDO