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MIRAGE
congenital stationary night blindness autosomal dominant 2
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease congenital stationary night blindness
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35913 | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0007642 | Congenital stationary night blindness |
