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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 chr 2:7,557,822...7,565,801
Ensembl chr 2:7,558,535...7,565,751
JBrowse link
G SLC2A9 solute carrier family 2 member 9 ISO ClinVar Annotator: match by term: Dalmatian hypouricemia ClinVar NCBI chr 8:6,211,143...6,367,530
Ensembl chr 8:6,210,478...6,367,496
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14552
    Nutritional and Metabolic Diseases 5666
      disease of metabolism 5666
        inherited metabolic disorder 3948
          renal tubular transport disease 91
            Renal Hypouricemia 2
Path 2
Term Annotations click to browse term
  disease 14552
    disease of anatomical entity 14262
      Urogenital Diseases 4217
        urinary system disease 1982
          kidney disease 1760
            renal tubular transport disease 91
              Renal Hypouricemia 2
paths to the root