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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 OMIM:613845
ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
OMIM
ClinVar
PMID:21255763, PMID:28492532 NCBI chr 1:86,923,769...86,935,506
Ensembl chr 1:86,923,591...86,935,904
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      HUPRA Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        vascular disease 3386
          artery disease 2372
            hypertension 1502
              pulmonary hypertension 302
                HUPRA Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.