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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:Cowden syndrome 5
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Accession:DOID:0081001 term browser browse the term
Definition:A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26. (DO)
Synonyms:exact_synonym: CWS5;   Cowden disease 5
 primary_id: OMIM:615108
 alt_id: DOID:9002318


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Cowden syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cowden syndrome 5		 OMIM
CTD
ClinVar		 PMID:17376864 PMID:19366826 PMID:21824802 PMID:22228622 PMID:22729222 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      Multiple Primary Neoplasms 240
        PTEN hamartoma tumor syndrome 37
          Cowden syndrome 12
            Cowden syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          Hereditary Neoplastic Syndromes 1284
            PTEN hamartoma tumor syndrome 37
              Cowden syndrome 12
                Cowden syndrome 5 1
paths to the root