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MIRAGE
X-linked cone-rod dystrophy 3
Summary
- Synonym
-
- CORDX3
- Definition
- A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.
- Super Class
- X-linked recessive disease cone-rod dystrophy
External Links
- Disease Ontology
- DOID:0111007
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60840 | Voltage-dependent L-type calcium channel subunit alpha-1F |
- 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 |
