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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;   RDO:0005686
For additional species annotation, visit the Alliance of Genome Resources.



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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:25741868 PMID:26376857 NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141
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 ISS OMIM:233100 MouseDO NCBI chr 4:151,083,262...151,104,464
Ensembl chr 4:151,083,062...151,109,038
JBrowse link
G Rusf1 RUS family member 1 ISO ClinVar Annotator: match by term: Familial renal glucosuria ClinVar PMID:14569097 PMID:14614622 PMID:15110322 PMID:18622023 PMID:28492532 NCBI chr 1:182,852,257...182,881,652
Ensembl chr 1:182,852,262...182,880,732
JBrowse link
G Slc5a2 solute carrier family 5 member 2 ISO DNA:frameshift mutation, missense mutation:cds:p.Q167fsX186, p.N654S (human)
ClinVar Annotator: match by term: Familial renal glucosuria
DNA:nonsense mutation:cds:p.W440X (human)
ClinVar
OMIM
RGD
PMID:12436245 PMID:14569097 PMID:14614622 PMID:15110322 PMID:18622023 More... RGD:1599049, RGD:737731 NCBI chr 1:182,847,185...182,853,309
Ensembl chr 1:182,847,106...182,853,306
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Urogenital Diseases 4682
        urinary system disease 2383
          Urination Disorders 613
            Glycosuria 5
              renal glycosuria + 4
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          inherited metabolic disorder 4644
            carbohydrate metabolic disorder 2558
              glucose metabolism disease 1871
                Glycosuria 5
                  renal glycosuria + 4
paths to the root