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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
Definition:This disease is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely.
Synonyms:exact_synonym: HUPRAS;   HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS;   hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
 primary_id: OMIM:613845

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HUPRA Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936704:747,109...766,981
Ensembl chrNW_004936704:746,775...771,305 		JBrowse link
G Sars2 seryl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME | ClinVar Annotator: match by term: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21255763 PMID:24034276 PMID:25741868 More... NCBI chrNW_004936661:1,861,646...1,871,707
Ensembl chrNW_004936661:1,861,646...1,871,687 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9495
      HUPRA Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14121
      cardiovascular system disease 4136
        vascular disease 2899
          artery disease 1923
            hypertension 953
              pulmonary hypertension 359
                HUPRA Syndrome 2
paths to the root