Fleck corneal dystrophy
Information
- Disease name
- Fleck corneal dystrophy
- Disease ID
- DOID:0060448
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/23288988/, url:https\://pubmed.ncbi.nlm.nih.gov/26396486]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060442
- Cross Reference ID (Disease Ontology)
- MESH:C563256
- Cross Reference ID (Disease Ontology)
- MIM:121850
- Cross Reference ID (Disease Ontology)
- ORDO:98970
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:417183007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1562113
- Exact Synonym (Disease Ontology)
- FCD
- Exact Synonym (Disease Ontology)
- Francois-Neetens speckled corneal dystrophy
- OrphaNumber from OrphaNet (Orphanet)
- 98970