Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 glycosuria
go back to main search page
Accession:DOID:9432 term browser browse the term
Definition:An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene.
Synonyms:exact_synonym: GLYS;   GLYS1;   renal diabetes;   renal glucosuria
 primary_id: MESH:D006030
 alt_id: OMIM:233100
 xref: GARD:7548;   ICD10CM:E74.8;   ICD9CM:271.4
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 4:149,957,143...149,978,896
Ensembl chr 4:149,957,206...149,978,895
JBrowse link
G Rusf1 RUS family member 1 ISO ClinVar Annotator: match by term: Glycosuria, Renal ClinVar PMID:14569097, PMID:14614622, PMID:15110322, PMID:18622023, PMID:28492532 NCBI chr 1:199,687,775...199,716,205
Ensembl chr 1:199,687,778...199,716,205
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: Glycosuria, Renal
ClinVar Annotator: match by OMIM:233100
DNA:nonsense mutation:cds:p.W440X (human)
ClinVar
OMIM
PMID:12436245, PMID:14569097, PMID:14614622, PMID:15110322, PMID:18622023, PMID:21165652, PMID:25741868, PMID:26376857, PMID:28492532, PMID:14614622, PMID:12436245 RGD:1599049, RGD:737731 NCBI chr 1:199,682,688...199,688,809
Ensembl chr 1:199,682,688...199,688,809
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 OMIM:612018 OMIM
ClinVar
PMID:17458810, PMID:18304496, PMID:21778275, PMID:26376857 NCBI chr 1:252,976,071...253,054,500
Ensembl chr 1:252,976,644...253,000,760
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        glucose metabolism disease 1763
          Glycosuria 5
            renal glycosuria 4
              cataract 47 1
Path 2
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        acquired metabolic disease 2792
          carbohydrate metabolism disease 1763
            glucose metabolism disease 1763
              Glycosuria 5
                renal glycosuria 4
                  cataract 47 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.