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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 5
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Accession:DOID:9007822 term browser browse the term
Synonyms:exact_synonym: ATP13A3-RELATED CONDITION;   PPH5;   PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE;   Primary Pulmonary Hypertension 5, Autosomal Recessive;   Primary Pulmonary Hypertension, 5
 primary_id: MIM:265400
 alt_id: MESH:C564862


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primary pulmonary hypertension 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp13a3 ATPase 13A3 ISO ClinVar Annotator: match by term: ATP13A3-related condition | ClinVar Annotator: match by term: Pulmonary hypertension, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 More... NCBI chr11:70,364,998...70,442,005
Ensembl chr11:70,365,322...70,441,235 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          polygenic disease 740
            digenic disease 740
              primary pulmonary hypertension 86
                primary pulmonary hypertension 5 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      respiratory system disease 5245
        thoracic disease 4054
          heart disease 3480
            congestive heart failure 558
              Cor pulmonale 90
                chronic pulmonary heart disease 86
                  primary pulmonary hypertension 86
                    primary pulmonary hypertension 5 1
paths to the root