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About: Fleck corneal dystrophy     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • Fleck corneal dystrophy
described by
id
  • DOID:0060448
created_by
  • elvira
creation_date
  • 2015-10-16T17:20:34Z
database_cross_reference
  • MESH:C563256
  • OMIM:121850
  • ORDO:98970
  • SNOMEDCT_US_2021_09_01:417183007
  • UMLS_CUI:C1562113
has_exact_synonym
  • FCD (en)
  • Francois-Neetens speckled corneal dystrophy (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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