Term Name: | congenital stationary night blindness 1D |
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Synonyms: | congenital stationary night blindness 1D autosomal recessive, CSNB1D |
Definition: | A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22. |
Ontology: | Human Disease [DOID:0110868] ( DOID:0110868 ) |