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Absence of the pulmonary valve - Ontology Report - Rat Genome Database

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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:Absence of the pulmonary valve
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Accession:HP:0005134 term browser browse the term
Definition:Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.
Comment:The distinctive feature of APVS is the airway obstruction caused by tracheobronchial compression that results from massive dilatation of the main pulmonary artery (PA) and its first- and second-order branches. Consequential tracheomalacia and bronchomalacia determine the timing and severity of respiratory compromise, as well as the morbidity and mortality of these patients.
Synonyms:exact_synonym: Absent pulmonary valve
 alt_id: HP:0005131
 xref: SNOMEDCT_US:6996004;   UMLS:C0265831

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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the cardiovascular system 0
        Abnormal cardiovascular system morphology 0
          Abnormal heart morphology 0
            Abnormal heart valve morphology 0
              Abnormal pulmonary valve morphology 0
                Absence of the pulmonary valve 0
                  Tetralogy of Fallot with absent pulmonary valve 0
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