Term Name: | congenital stationary night blindness autosomal dominant 2 |
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Synonyms: | CSNBAD2, Rambusch type congenital stationary night blindness |
Definition: | A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. |
Ontology: | Human Disease [DOID:0110863] ( DOID:0110863 ) |