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MIRAGE
retinal cone dystrophy 4
Summary
- Definition
- A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13.
- Super Class
- cone dystrophy
External Links
- Disease Ontology
- DOID:0081023
- Mondo Disease Ontology
- MeSH
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7Z3S7 | Voltage-dependent calcium channel subunit alpha-2/delta-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 |
| HP:0007984 | Electronegative electroretinogram |
| HP:0007663 | Reduced visual acuity |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001133 | Constriction of peripheral visual field |
| HP:0007814 | Retinal pigment epithelial mottling |
