| Metadata | |
|---|---|
| ID | DOID:0060448 |
| Name | Fleck 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. https://pubmed.ncbi.nlm.nih.gov/23288988/, https://pubmed.ncbi.nlm.nih.gov/26396486 |
| Xrefs |
SNOMEDCT_US_2023_03_01:417183007 |
| Subsets |
DO_rare_slim |
| Synonyms |
FCD [EXACT] Francois-Neetens speckled corneal dystrophy [EXACT] |
| Parent Relationships |
is_a stromal dystrophy |