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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:Gastrointestinal arteriovenous malformation
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Accession:HP:0002629 term browser browse the term
Definition:An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.
Synonyms:exact_synonym: GI arteriovenous malformation
 xref: UMLS:C0744321


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Gastrointestinal 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 MIM: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 MIM:187300 ORPHA:774 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		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 GLMN glomulin, FKBP associated protein IAGP HPO ORPHA:83454 NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO 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 95636
    Phenotypic abnormality 95258
      Abnormality of the digestive system 14936
        Abnormality of the gastrointestinal tract 9052
          Abnormal gastrointestinal tract morphology 5431
            Abnormal gastrointestinal vascular morphology 7
              Gastrointestinal arteriovenous malformation 5
                Colonic arteriovenous malformation 0
                Duodenal arteriovenous malformation 0
                Gastric arteriovenous malformation 0
                Jejunal arteriovenous malformation 0
                Rectal arteriovenous malformation 0
Path 2
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the cardiovascular system 15403
        Abnormality of the vasculature 8462
          Abnormal vascular morphology 7064
            Abnormal blood vessel morphology 6067
              Arteriovenous malformation 77
                Gastrointestinal arteriovenous malformation 5
                  Colonic arteriovenous malformation 0
                  Duodenal arteriovenous malformation 0
                  Gastric arteriovenous malformation 0
                  Jejunal arteriovenous malformation 0
                  Rectal arteriovenous malformation 0
paths to the root