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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
 xref: MONDO:0054832


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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 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29499165 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        corneal disease 233
          corneal dystrophy 52
            posterior polymorphous corneal dystrophy 6
              posterior polymorphous corneal dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              corneal disease 233
                corneal dystrophy 52
                  posterior polymorphous corneal dystrophy 6
                    posterior polymorphous corneal dystrophy 4 1
paths to the root