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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-aminoacyl-tRNA synthetase 2 ISO DNA:missense mutation:CDS:p.D390G (human)
ClinVar Annotator: match by term: HUPRA SYNDROME | ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
OMIM
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:21255763 PMID:24034276 PMID:25741868 More... RGD:41410777 NCBI chr 7:28,441,393...28,453,304
Ensembl chr 7:28,441,417...28,453,296
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15270
    syndrome 9178
      HUPRA Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15270
    disease of anatomical entity 14918
      cardiovascular system disease 3989
        vascular disease 2846
          artery disease 1810
            hypertension 913
              pulmonary hypertension 346
                HUPRA Syndrome 1
paths to the root