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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, 2
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Accession:DOID:9007721 term browser browse the term
Synonyms:exact_synonym: RHUC2
 narrow_synonym: GOUT SUSCEPTIBILITY 2;   GOUT2;   UAQTL2;   URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2
 primary_id: MESH:C567426
 alt_id: OMIM:612076
For additional species annotation, visit the Alliance of Genome Resources.



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Renal Hypouricemia, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a9 solute carrier family 2 member 9 ISO ClinVar Annotator: match by term: Hypouricemia, renal, 2 | ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 2 OMIM
ClinVar
PMID:18327256 PMID:18327257 PMID:18701466 PMID:19026395 PMID:19189137 More... NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Nutritional and Metabolic Diseases 6780
      disease of metabolism 6780
        inherited metabolic disorder 4684
          renal tubular transport disease 99
            Renal Hypouricemia, 2 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      Urogenital Diseases 4728
        urinary system disease 2409
          kidney disease 2178
            renal tubular transport disease 99
              Renal Hypouricemia, 2 1
paths to the root