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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:Hepatic arteriovenous malformation
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Accession:HP:0006574 term browser browse the term
Synonyms:exact_synonym: Liver arteriovenous malformation
 alt_id: HP:0006569
 xref: SNOMEDCT_US:84150000;   UMLS:C0520557



show annotations for term's descendants           Sort by:
Hepatic arteriovenous malformation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP HPO OMIM:600376 ORPHA:774 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ENG endoglin IAGP HPO OMIM:187300 ORPHA:774 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G GDF2 growth differentiation factor 2 IAGP HPO ORPHA:774 NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO OMIM:175050 ORPHA:774 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21508
    Phenotypic abnormality 21499
      Abnormality of the cardiovascular system 3945
        Abnormality of the vasculature 2388
          Abnormality of the hepatic vasculature 92
            Hepatic arteriovenous malformation 4
Path 2
Term Annotations click to browse term
  Human phenotype 21508
    Phenotypic abnormality 21499
      Abnormality of the digestive system 4643
        Abnormality of the abdominal organs 1688
          Abnormality of the liver 1235
            Abnormal liver morphology 915
              Abnormality of the hepatic vasculature 92
                Hepatic arteriovenous malformation 4
paths to the root