Congenital stationary night blindness 1C

Definition

Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene.

Also known as congenital stationary night blindness 1C, congenital stationary night blindness caused by mutation in TRPM1, congenital stationary night blindness type 1C, CSNB1C, night blindness, congenital stationary (complete), 1C, autosomal recessive, TRPM1 congenital stationary night blindness — per MONDO

Also identified as

• DOID 0110867 per MONDO
• MESH C567704 per MONDO
• OMIM 613216 per MONDO
• UMLS C2750747 per MONDO