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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
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000548 | Cone/cone-rod dystrophy |
