Leber congenital amaurosis 11

Definition

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.

Also known as IMPDH1 Leber congenital amaurosis, LCA11, Leber congenital amaurosis 11, Leber congenital amaurosis caused by mutation in IMPDH1, Leber congenital amaurosis type 11 — per MONDO

Also identified as

• DOID 0110216 per MONDO
• MESH C564140 per MONDO
• OMIM 613837 per MONDO
• UMLS C1840284 per MONDO