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Renal Hypouricemia - Ontology Report - Rat Genome Database

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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
 xref: MESH:C537757;   MIM:PS220150

 Loading Annotations... 
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show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dalmatian hypouricemia | ClinVar Annotator: match by term: Hereditary renal hypouricemia 		CTD
ClinVar		 PMID:12024214 PMID:14655203 PMID:14694169 PMID:15054642 PMID:15327384 More... NCBI chr 1:213,274,266...213,282,793
Ensembl chr 1:203,845,048...203,853,555 		JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dalmatian hypouricemia 		CTD
ClinVar		 PMID:18989453 PMID:22132990 NCBI chr14:76,540,649...76,674,277
Ensembl chr14:72,328,320...72,461,981 		JBrowse link
Renal Hypouricemia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc22a12 solute carrier family 22 member 12 ISO OMIM NCBI chr 1:213,274,266...213,282,793
Ensembl chr 1:203,845,048...203,853,555 		JBrowse link
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: SLC2A9-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:18701466 PMID:19026395 PMID:19189137 PMID:19926891 PMID:21256783 More... NCBI chr14:76,540,649...76,674,277
Ensembl chr14:72,328,320...72,461,981 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        inherited metabolic disorder 6628
          renal tubular transport disease 111
            Renal Hypouricemia 2
              Renal Hypouricemia 1 1
              Renal Hypouricemia 2 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Urogenital Diseases 5402
        urinary system disease 2834
          kidney disease 2580
            renal tubular transport disease 111
              Renal Hypouricemia 2
                Renal Hypouricemia 1 1
                Renal Hypouricemia 2 1
paths to the root