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 1H ID (Ontology) DOID:0110866 (Human Disease)
Definition A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.
Also Known As "congenital stationary night blindness type 1H" ; "CSNB1H"
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 Genes
 congenital stationary night blindness 1H       2
 for disease ribbon | congenital stationary night blindness 1H       2
 model of | congenital stationary night blindness 1H       2
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 1H  2 rec.
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Is a congenital stationary night blindness
autosomal recessive disease
Part of
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Synonyms
  • "congenital stationary night blindness type 1H" EXACT
    "CSNB1H" EXACT OMO:0003012
Secondary IDs
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MIM:617024