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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:Primary Pulmonary Hypertension, 2
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Accession:DOID:9003493 term browser browse the term
Synonyms:exact_synonym: PPH2
 primary_id: OMIM:615342

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Primary Pulmonary Hypertension, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad9 SMAD family member 9 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19211612 PMID:19419974 More... NCBI chrNW_004624776:332,591...378,199 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15960
    Developmental Disease 15901
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15853
        genetic disease 15841
          polygenic disease 692
            digenic disease 692
              primary pulmonary hypertension 106
                Primary Pulmonary Hypertension, 2 1
Path 2
Term Annotations click to browse term
  disease 15960
    disease of anatomical entity 13723
      cardiovascular system disease 4062
        heart disease 2844
          congestive heart failure 486
            Cor pulmonale 110
              chronic pulmonary heart disease 106
                primary pulmonary hypertension 106
                  Primary Pulmonary Hypertension, 2 1
paths to the root