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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-Like Syndrome
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Accession:DOID:9002552 term browser browse the term
Synonyms:exact_synonym: COWDEN SYNDROME 2;   CWS2
 primary_id: MESH:C567337
 alt_id: RDO:0015433
For additional species annotation, visit the Alliance of Genome Resources.



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Cowden-Like Syndrome 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 ClinVar Annotator: match by term: Cowden-like syndrome ClinVar PMID:24728327 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      Cowden-Like Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          Hereditary Neoplastic Syndromes 1065
            PTEN hamartoma tumor syndrome 33
              Cowden syndrome 12
                Cowden-Like Syndrome 1
paths to the root