FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital stationary night blindness 1D ID (Ontology) DOID:0110868 (Human Disease)
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.
Also Known As "congenital stationary night blindness 1D autosomal recessive" ; "CSNB1D"
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 Genes
 congenital stationary night blindness 1D       1
 for disease ribbon | congenital stationary night blindness 1D       1
 model of | congenital stationary night blindness 1D       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____________
physical disorder                          |
 |__congenital stationary night blindness__|
hereditary night blindness                 |
 |__congenital stationary night blindness__|
                                           congenital stationary night blindness 1D  1 rec.
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Is a congenital stationary night blindness
autosomal recessive disease
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Synonyms
  • "congenital stationary night blindness 1D autosomal recessive" EXACT
    "CSNB1D" EXACT OMO:0003012
Secondary IDs
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MIM:613830