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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:Renal Hypouricemia
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Accession:DOID:9007605 term browser browse the term
Synonyms:exact_synonym: Dalmatian hypouricemia;   HEREDITARY RENAL HYPOURICEMIA;   Hypouricemia, Renal, 1;   RHUC1
 primary_id: MESH:C537757
 alt_id: OMIM:220150
For additional species annotation, visit the Alliance of Genome Resources.


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Renal Hypouricemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc22a12 solute carrier family 22 member 12 ISO ClinVar Annotator: match by term: Dalmatian hypouricemia OMIM
ClinVar
PMID:12024214 PMID:14655203 PMID:14694169 PMID:15054642 PMID:15327384 More... NCBI chrNW_004936599:4,693,493...4,698,556
Ensembl chrNW_004936599:4,693,352...4,698,721
JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO ClinVar Annotator: match by term: Dalmatian hypouricemia ClinVar NCBI chrNW_004936477:16,700,915...16,836,424
Ensembl chrNW_004936477:16,717,002...16,834,663
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13815
    Nutritional and Metabolic Diseases 5422
      disease of metabolism 5422
        inherited metabolic disorder 3776
          renal tubular transport disease 89
            Renal Hypouricemia 2
Path 2
Term Annotations click to browse term
  disease 13815
    disease of anatomical entity 13535
      Urogenital Diseases 4058
        urinary system disease 1893
          kidney disease 1688
            renal tubular transport disease 89
              Renal Hypouricemia 2
paths to the root