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Human Disease
congenital stationary night blindness 1D
- Term ID
- DOID:0110868
- Synonyms
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- congenital stationary night blindness 1D autosomal recessive
- CSNB1D
- Definition
- A congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22. (2)
- References
- Ontology
- Human Disease ( DOID:0110868 )
- is a type of
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