Fleck corneal dystrophy

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Echinobase

Summary

Literature (0)

DOID:0060448 - Fleck corneal dystrophy

Disease Ontology 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.

Synonyms: FCD, Francois-Neetens speckled corneal dystrophy

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:121850 - corneal dystrophy, fleck

MIM:121850 - corneal dystrophy, fleck

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): stromal dystrophy (is_a)