Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000551 | Color vision defect |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0000540 | Hypermetropia |
| HP:0000662 | Nyctalopia |
| HP:0000486 | Strabismus |
| HP:0007663 | Reduced visual acuity |
| HP:0000545 | Myopia |
| HP:0007984 | Electronegative electroretinogram |
| HP:0000639 | Nystagmus |
