Metadata | |
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ID | DOID:0110868 |
Name | congenital stationary night blindness 1D |
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. https://www.ncbi.nlm.nih.gov/pubmed/20850105 |
Xrefs | |
Synonyms |
congenital stationary night blindness 1D autosomal recessive [EXACT] CSNB1D [EXACT] |
Parent Relationships |