Term Name: | congenital stationary night blindness 1H |
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Synonyms: | congenital stationary night blindness type 1H, CSNB1H |
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. |
Ontology: | Human Disease [DOID:0110866] ( DOID:0110866 ) |