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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:posterior polymorphous corneal dystrophy 4
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Accession:DOID:0080669 term browser browse the term
Definition:A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22. (DO)
Synonyms:exact_synonym: PPCD4
 primary_id: OMIM:618031
For additional species annotation, visit the Alliance of Genome Resources.


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posterior polymorphous corneal dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 ClinVar
OMIM
PMID:29499165 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    sensory system disease 5611
      eye disease 2732
        corneal disease 201
          corneal dystrophy 45
            posterior polymorphous corneal dystrophy 6
              posterior polymorphous corneal dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        sensory system disease 5611
          eye disease 2732
            corneal disease 201
              corneal dystrophy 45
                posterior polymorphous corneal dystrophy 6
                  posterior polymorphous corneal dystrophy 4 1
paths to the root