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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

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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 chrNW_004936512:9,364,551...9,379,131
Ensembl chrNW_004936512:9,364,149...9,379,431 		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 chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14499
    disease of anatomical entity 14148
      cardiovascular system disease 4139
        vascular disease 2903
          peripheral vascular disease 351
            telangiectasis 134
              Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
Path 2
Term Annotations click to browse term
  disease 14499
    disease of anatomical entity 14148
      cardiovascular system disease 4139
        vascular disease 2903
          artery disease 1926
            hypertension 953
              pulmonary hypertension 359
                Pulmonary Arterial Hypertension 92
                  Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
paths to the root