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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:CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET
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Accession:DOID:9003361 term browser browse the term
Definition:This disease is characterized by the presence of tiny round multicolored opacities in the posterior stroma of the cornea, immediately anterior to the Descemet membrane.
Synonyms:exact_synonym: PPPCD;   punctiform and polychromatic pre-Descemet corneal dystrophy
 primary_id: OMIM:619871
For additional species annotation, visit the Alliance of Genome Resources.



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CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Corneal dystrophy, punctiform and polychromatic pre-Descemet ClinVar
OMIM
PMID:31782998 PMID:34369396 NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18213
    sensory system disease 6432
      eye disease 2959
        corneal disease 209
          corneal dystrophy 51
            corneal endothelial dystrophy 10
              CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET 1
Path 2
Term Annotations click to browse term
  disease 18213
    disease of anatomical entity 17574
      nervous system disease 13207
        sensory system disease 6432
          eye disease 2959
            Hereditary Eye Diseases 755
              corneal dystrophy 51
                corneal endothelial dystrophy 10
                  CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET 1
paths to the root