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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: OMIM:307830


show annotations for term's descendants           Sort by:
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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Nutritional and Metabolic Diseases 8205
      disease of metabolism 8205
        inherited metabolic disorder 6213
          renal tubular transport disease 134
            Familial Renal Hypouricemia due to Tubular Hypersecretion 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      Urogenital Diseases 5221
        urinary system disease 2829
          kidney disease 2585
            renal tubular transport disease 134
              Familial Renal Hypouricemia due to Tubular Hypersecretion 1
paths to the root