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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Fleck corneal dystrophy
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Accession:DOID:0060448 term browser browse the term
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. (DO)
Synonyms:exact_synonym: CFD;   FCD;   Francois-Neetens corneal dystrophy, speckled or flecked;   Francois-Neetens speckled corneal dystrophy
 primary_id: MESH:C563256
 alt_id: OMIM:121850
 xref: ORDO:98970


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Fleck corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing ISO ClinVar Annotator: match by term: Fleck corneal dystrophy OMIM
ClinVar
PMID:15902656 PMID:18558518 PMID:23288988 PMID:25741868 PMID:26396486 More... NCBI chrNW_004936950:242,071...323,204
Ensembl chrNW_004936950:242,522...320,078
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6272
      eye disease 3199
        corneal disease 210
          corneal dystrophy 49
            stromal dystrophy 11
              Fleck corneal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11257
      Signs and Symptoms 9333
        Neurologic Manifestations 9024
          sensory system disease 6272
            eye disease 3199
              Hereditary Eye Diseases 1034
                corneal dystrophy 49
                  stromal dystrophy 11
                    Fleck corneal dystrophy 1
paths to the root