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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
DNA:missense mutation:CDS:p.D390G (human)
OMIM
ClinVar
RGD
PMID:21255763 PMID:24034276 PMID:25741868 PMID:28492532 PMID:21255763 RGD:41410777 NCBI chr 1:84,028,972...84,040,725
Ensembl chr 1:84,028,986...84,040,725
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      HUPRA Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      cardiovascular system disease 4526
        vascular disease 3440
          artery disease 2405
            hypertension 1509
              pulmonary hypertension 305
                HUPRA Syndrome 1
paths to the root