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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:Tetralogy of Fallot
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Accession:HP:0001636 term browser browse the term
Definition:A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
Synonyms:exact_synonym: Tetrology of fallot
 xref: ICD-10:Q21.3;   SNOMEDCT_US:86299006;   UMLS:C0039685


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Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the cardiovascular system 0
        Abnormal cardiovascular system morphology 0
          Abnormal heart morphology 0
            Abnormal connection of the cardiac segments 0
              Abnormal ventriculoarterial connection 0
                Conotruncal defect 0
                  Tetralogy of Fallot 0
                    Tetralogy of Fallot with absent pulmonary valve 0
                    Tetralogy of Fallot with absent subarterial conus 0
                    Tetralogy of Fallot with atrioventricular canal defect 0
                    Tetralogy of Fallot with pulmonary atresia + 0
                    Tetralogy of Fallot with pulmonary stenosis 0
Path 2
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the cardiovascular system 0
        Abnormality of the vasculature 0
          Abnormal vascular morphology 0
            Abnormal blood vessel morphology 0
              Abnormal morphology of the great vessels 0
                Congenital malformation of the great arteries 0
                  Conotruncal defect 0
                    Tetralogy of Fallot 0
                      Tetralogy of Fallot with absent pulmonary valve 0
                      Tetralogy of Fallot with absent subarterial conus 0
                      Tetralogy of Fallot with atrioventricular canal defect 0
                      Tetralogy of Fallot with pulmonary atresia + 0
                      Tetralogy of Fallot with pulmonary stenosis 0
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