Search Ontology:
Human Disease

congenital stationary night blindness 1C

Term ID
DOID:0110867
Synonyms
  • congenital stationary night blindness 1C autosomal recessive
  • CSNB1C
Definition
A 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. https://www.ncbi.nlm.nih.gov/pubmed/19878917
References
Ontology
Human Disease   ( DOID:0110867 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations