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DO Term : Fleck corneal dystrophy [DOID:0060448] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • ORDO:98970,
  • FCD,
  • UMLS_CUI:C1562113,
  • SNOMEDCT_US_2023_03_01:417183007,
  • MESH:C563256,
  • OMIM:121850,
  • Francois-Neetens speckled corneal dystrophy,
  • 121850
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