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Dysplastic 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:Dysplastic pulmonary valve
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Accession:HP:0005164 term browser browse the term
Definition:A congenital malformation of the pulmonary valve characterized by leaflet deformation.
Synonyms:exact_synonym: Dysplasia of pulmonary valve;   Pulmonary valve dysplasia
 xref: UMLS:C1866206

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Dysplastic pulmonary valve term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO PMID:26235985 MIM:300958 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP HPO PMID:32822602 MIM:619103 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Dysplastic pulmonary valve ClinVar PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO PMID:33875846 MIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 98856
    Phenotypic abnormality 98459
      Abnormality of the cardiovascular system 15816
        Abnormal cardiovascular system morphology 8670
          Abnormal heart morphology 2355
            Abnormal heart valve morphology 500
              Abnormal pulmonary valve morphology 61
                Dysplastic pulmonary valve 5
paths to the root