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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:Atrioventricular canal defect
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Accession:HP:0006695 term browser browse the term
Definition:A defect of the atrioventricular septum of the heart.
Comment:During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal.
Synonyms:exact_synonym: Atrioventricular septal defect;   Endocardial cushion defect
 broad_synonym: Hole in center of heart;   Hole in centre of heart
 alt_id: HP:0005139;   HP:0005298;   HP:0010439
 xref: Fyler:0606;   Fyler:1100;   Fyler:606;   SNOMEDCT_US:15459006;   UMLS:C0014116;   UMLS:C1389016


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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 cardiac septum morphology 0
              Atrioventricular canal defect 0
                Complete atrioventricular canal defect 0
                Intermediate atrioventricular canal defect 0
                Partial atrioventricular canal defect 0
                Primum atrial septal defect 0
                Transitional atrioventricular canal defect 0
                Unbalanced atrioventricular canal defect 0
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