OBO ID: DOID:0060448
Term Name: Fleck corneal dystrophy Search Ontology:
Synonyms:
  • 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. (2)
References:
Ontology: Human Disease   ( DOID:0060448 )
Relationships
is a type of:
OTHER Fleck corneal dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIKFYVE Corneal fleck dystrophy 121850
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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