Term Name: | congenital stationary night blindness 1E |
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Synonyms: | congenital stationary night blindness 1E autosomal recessive, CSNB1E |
Definition: | A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. |
Ontology: | Human Disease [DOID:0110869] ( DOID:0110869 ) |