Leber congenital amaurosis 14

Definition

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

Also known as LCA14, Leber congenital amaurosis 14, Leber congenital amaurosis caused by mutation in LRAT, Leber congenital amaurosis type 14, LRAT Leber congenital amaurosis, retinal dystrophy, early-onset severe — per MONDO

Also identified as

• DOID 0110188 per MONDO
• MESH C567636 per MONDO
• OMIM 613341 per MONDO
• UMLS C2750063 per MONDO