Term Name: | congenital stationary night blindness 1C |
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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. |
Ontology: | Human Disease [DOID:0110867] ( DOID:0110867 ) |