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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:Glycosuria
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Accession:DOID:9003426 term browser browse the term
Definition:The appearance of an abnormally large amount of GLUCOSE in the urine, such as more than 500 mg/day in adults. It can be due to HYPERGLYCEMIA or genetic defects in renal reabsorption (RENAL GLYCOSURIA).
Synonyms:exact_synonym: glucosuria
 primary_id: MESH:D006029


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Glycosuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNF4A hepatocyte nuclear factor 4 alpha ISO ClinVar Annotator: match by term: Glycosuria ClinVar PMID:9267996 PMID:9313765 PMID:9449683 PMID:10983627 PMID:15793260 More... NCBI chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536 		JBrowse link
cataract 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC16A12 solute carrier family 16 member 12 ISO ClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria OMIM
ClinVar		 PMID:17458810 PMID:18304496 PMID:21778275 PMID:24281366 PMID:25741868 More... NCBI chr10:86,155,527...86,187,917
Ensembl chr10:89,696,148...89,727,585 		JBrowse link
renal glycosuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPF heterogeneous nuclear ribonucleoprotein F ISO OMIM:233100 MouseDO NCBI chr10:40,368,029...40,391,406 JBrowse link
G RUSF1 RUS family member 1 ISO ClinVar Annotator: match by term: Familial renal glucosuria | ClinVar Annotator: match by term: SLC5A2-related condition ClinVar PMID:14569097 PMID:14614622 PMID:15110322 PMID:18622023 PMID:25741868 More... NCBI chr16:23,457,144...23,476,038
Ensembl chr16:31,859,969...31,878,665 		JBrowse link
G SLC5A2 solute carrier family 5 member 2 ISO ClinVar Annotator: match by term: Familial renal glucosuria | ClinVar Annotator: match by term: SLC5A2-related condition OMIM
ClinVar		 PMID:12436245 PMID:14569097 PMID:14614622 PMID:15110322 PMID:18622023 More... NCBI chr16:23,474,992...23,482,603
Ensembl chr16:31,853,602...31,861,261 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Urogenital Diseases 4727
        urinary system disease 2403
          Urination Disorders 416
            Glycosuria 5
              renal glycosuria + 4
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          inherited metabolic disorder 5523
            carbohydrate metabolic disorder 2685
              glucose metabolism disease 1486
                Glycosuria 5
                  renal glycosuria + 4
paths to the root