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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:HUPRA Syndrome
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Accession:DOID:9005811 term browser browse the term
Synonyms:exact_synonym: HUPRAS;   hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
 primary_id: OMIM:613845
For additional species annotation, visit the Alliance of Genome Resources.


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HUPRA Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sars2 seryl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: HUPRA SYNDROME | ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21255763 PMID:24034276 PMID:25741868 More... NCBI chrNW_004936661:1,861,646...1,871,707 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13707
    syndrome 8331
      HUPRA Syndrome 1
Path 2
Term Annotations click to browse term
  disease 13707
    disease of anatomical entity 13435
      cardiovascular system disease 3562
        vascular disease 2520
          artery disease 1637
            hypertension 813
              pulmonary hypertension 316
                HUPRA Syndrome 1
paths to the root