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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:Aortic valve atresia
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Accession:HP:0010883 term browser browse the term
Definition:A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.
Synonyms:exact_synonym: Aortic atresia
 xref: SNOMEDCT_US:51442005;   UMLS:C0265843


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Aortic valve atresia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP1 forkhead box P1 IAGP ClinVar Annotator: match by term: Aortic valve atresia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP HPO MIM:220111 NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO MIM:614435 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO MIM:619895 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the cardiovascular system 5823
        Abnormal cardiovascular system morphology 3266
          Abnormal heart morphology 1861
            Abnormal heart valve morphology 408
              Abnormal aortic valve morphology 211
                Aortic valve atresia 4
paths to the root