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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:Increased pulmonary vascular resistance
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Accession:HP:0005317 term browser browse the term
Definition:Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.
Synonyms:xref: UMLS:C1867423



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Increased pulmonary vascular resistance term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO ORPHA:99103 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Increased pulmonary vascular resistance ClinVar
HPO
PMID:25741868 PMID:28492532 OMIM:178600 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G CAV1 caveolin 1 IAGP HPO OMIM:615343 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 IAGP HPO ORPHA:99103 NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648
JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:99103 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO ORPHA:99103 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP HPO OMIM:615344 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420
JBrowse link
G MYH6 myosin heavy chain 6 IAGP HPO ORPHA:99103 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:99103 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
G SMAD9 SMAD family member 9 IAGP HPO OMIM:615342 NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887
JBrowse link
G SOX17 SRY-box transcription factor 17 IAGP DNA:nonsense mutation:CDS:p.Q127* RGD PMID:33952808 RGD:329853326 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
JBrowse link
G TBX20 T-box transcription factor 20 IAGP HPO ORPHA:99103 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100
JBrowse link
G TLL1 tolloid like 1 IAGP HPO ORPHA:99103 NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21537
    Phenotypic abnormality 21527
      Abnormality of the respiratory system 2473
        Abnormal respiratory system physiology 2463
          Abnormality of pulmonary circulation 294
            Increased pulmonary vascular resistance 14
Path 2
Term Annotations click to browse term
  Human phenotype 21537
    Phenotypic abnormality 21527
      Abnormality of the cardiovascular system 3960
        Abnormality of the vasculature 2398
          Abnormal vascular physiology 462
            Abnormality of pulmonary circulation 294
              Increased pulmonary vascular resistance 14
paths to the root