Leber congenital amaurosis 9

Definition

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene.

Also known as LCA9, Leber congenital amaurosis 9, Leber congenital amaurosis caused by mutation in NMNAT1, Leber congenital amaurosis type 9, NMNAT1 Leber congenital amaurosis — per MONDO

Also identified as

• DOID 0110005 per MONDO
• MESH C536603 per MONDO
• OMIM 608553 per MONDO
• UMLS C1837873 per MONDO