Metadata | |
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ID | DOID:0110715 |
Name | congenital stationary night blindness autosomal dominant 3 |
Definition | A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/8673138 |
Xrefs | |
Synonyms |
CSNBAD3 [EXACT] Nougaret 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 |