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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:Conus terminalis arteriovenous malformation
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Accession:HP:0031939 term browser browse the term
Comment:An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries with location in the conus terminalis. {xref="PMID:27485904"}


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Conus terminalis arteriovenous malformation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RASA1 RAS p21 protein activator 1 IAGP HPO ORPHA:90307 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
Term paths to the root
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  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the nervous system 15589
        Abnormal nervous system morphology 4218
          Morphological central nervous system abnormality 4108
            Abnormal spinal cord morphology 317
              Abnormal conus terminalis morphology 31
                Conus terminalis arteriovenous malformation 1
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