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Metadata
ID DOID:0110867
Name congenital stationary night blindness 1C
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
Xrefs

MIM:613216

Synonyms

congenital stationary night blindness 1C autosomal recessive [EXACT]

CSNB1C [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital stationary night blindness

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