# congenital stationary night blindness 1C

> congenital stationary night blindness characterized by autosomal recessive that has material basis in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14

**Wikidata**: [Q32144049](https://www.wikidata.org/wiki/Q32144049)  
**Source**: https://4ort.xyz/entity/congenital-stationary-night-blindness-1c


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)