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| Term | Fleck corneal dystrophy | ID (Ontology) | DOID:0060448 (Human Disease) |
| 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. | ||
| Also Known As | "FCD" ; "Francois-Neetens speckled corneal dystrophy" | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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corneal dystrophy |__stromal dystrophy |__Fleck corneal dystrophy 1 rec. |
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Relationships
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| Is a | stromal dystrophy | ||
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External Crossreferences & Linkouts
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MESH:C563256 MIM:121850 ORDO:98970 SNOMEDCT_US_2023_03_01:417183007 UMLS_CUI:C1562113 |
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