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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related
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Accession:DOID:9001227 term browser browse the term
Synonyms:exact_synonym: DOID:9001820
 primary_id: MESH:C563358
 alt_id: RDO:0012638


show annotations for term's descendants           Sort by:
Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED ClinVar PMID:8640225 PMID:9245985 PMID:10187774 PMID:10767348 PMID:11170071 More... NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:132,239,729...132,256,591 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED ClinVar PMID:14684682 PMID:15024723 PMID:15115879 PMID:15687131 PMID:15879500 More... NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      cardiovascular system disease 5547
        vascular disease 4029
          peripheral vascular disease 394
            telangiectasis 146
              Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      cardiovascular system disease 5547
        vascular disease 4029
          artery disease 2864
            hypertension 1635
              pulmonary hypertension 426
                Pulmonary Arterial Hypertension 111
                  Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
paths to the root