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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cone-rod dystrophy 7
Summary
- Synonym
-
- CORD7
- Definition
- A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13.
- Super Class
- cone-rod dystrophy
External Links
- Disease Ontology
- DOID:0111012
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9GZR5 | Very long chain fatty acid elongase 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000551 | Color vision defect |
| HP:0000662 | Nyctalopia |
| HP:0000505 | Visual impairment |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0000613 | Photophobia |
