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congenital stationary night blindness 1E
Summary
- Synonym
-
- CSNB1E
- congenital stationary night blindness 1E autosomal recessive
- 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.
- Super Class
- autosomal recessive disease congenital stationary night blindness
External Links
- Disease Ontology
- DOID:0110869
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6PRD1 | Probable G-protein coupled receptor 179 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| E9PY61 | G-protein coupled receptor 179 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000639 | Nystagmus |
| HP:0000551 | Color vision defect |
| HP:0000486 | Strabismus |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0000662 | Nyctalopia |
| HP:0000540 | Hypermetropia |
| HP:0007663 | Reduced visual acuity |
| HP:0000545 | Myopia |
| HP:0007984 | Electronegative electroretinogram |
