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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:Familial Renal Hypouricemia due to Tubular Hypersecretion
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Accession:DOID:9007733 term browser browse the term
Synonyms:exact_synonym: FAMILIAL RENAL HYPOURICEMIA
 primary_id: MESH:C564405
 alt_id: RDO:0013380
For additional species annotation, visit the Alliance of Genome Resources.



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Familial Renal Hypouricemia due to Tubular Hypersecretion 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: Familial renal hypouricemia ClinVar PMID:14694169 PMID:15327384 PMID:15741204 PMID:15912381 PMID:16703794 More... NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555
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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
            Familial Renal Hypouricemia due to Tubular Hypersecretion 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
              Familial Renal Hypouricemia due to Tubular Hypersecretion 1
paths to the root