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Fleck corneal dystrophy
Summary
- Synonym
-
- FCD
- Francois-Neetens speckled corneal dystrophy
- Definition
- A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34.
- Super Class
- stromal dystrophy
External Links
- Disease Ontology
- DOID:0060448
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000613 | Photophobia |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0007962 | Speckled corneal dystrophy |
