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cone-rod dystrophy 3
Summary
- Synonym
-
- CORD3
- Definition
- A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22.
- Super Class
- cone-rod dystrophy
External Links
- Disease Ontology
- DOID:0111013
- Mondo Disease Ontology
- MeSH
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P78363 | Retinal-specific phospholipid-transporting ATPase ABCA4 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O35600 | Retinal-specific phospholipid-transporting ATPase ABCA4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000505 | Visual impairment |
| HP:0000551 | Color vision defect |
| HP:0000613 | Photophobia |
| HP:0000662 | Nyctalopia |
| HP:0007703 | Abnormality of retinal pigmentation |
