Metadata | |
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ID | DOID:0110863 |
Name | congenital stationary night blindness autosomal dominant 2 |
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. https://www.ncbi.nlm.nih.gov/pubmed/8075643 |
Xrefs | |
Synonyms |
CSNBAD2 [EXACT] Rambusch type congenital stationary night blindness [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth |