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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Gastrointestinal desmoid tumor
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Accession:HP:0100245 term browser browse the term
Definition:Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.
Comment:Most cases are sporadic, but some are associated with familial adenomatous polyposis (FAP). Approximately 10% of individuals with Gardner's syndrome, a type of FAP with extracolonic features, have desmoid tumors. Risk factors for desmoid disease amongst FAP patients include female gender, a 3' APC mutation, a positive family history and a history of previous abdominal surgery.
Synonyms:exact_synonym: Desmoid tumors;   Desmoid tumours
 xref: NCI:C3042;   SNOMEDCT_US:399994005;   SNOMEDCT_US:400055004;   SNOMEDCT_US:47284001;   UMLS:C0079218


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Path 1
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the digestive system 0
        Digestive system neoplasm 0
          Neoplasm of the gastrointestinal tract 0
            Gastrointestinal desmoid tumor 0
Path 2
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Neoplasm 0
        Neoplasm by anatomical site 0
          Digestive system neoplasm 0
            Neoplasm of the gastrointestinal tract 0
              Gastrointestinal desmoid tumor 0
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