Leber congenital amaurosis 3

Definition

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.

Also known as LCA3, Leber congenital amaurosis 3, Leber congenital amaurosis caused by mutation in SPATA7, Leber congenital amaurosis type 3, retinitis pigmentosa, juvenile, autosomal recessive, SPATA7 Leber congenital amaurosis — per MONDO

Also identified as

• DOID 0110331 per MONDO
• MESH C565814 per MONDO
• OMIM 604232 per MONDO
• UMLS C1858677 per MONDO