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

ONTOLOGY REPORT - ANNOTATIONS


Term:maturity-onset diabetes of the young type 5
go back to main search page
Accession:DOID:0111101 term browser browse the term
Definition:A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. (DO)
Synonyms:exact_synonym: CAKUT WITH DIABETES;   CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES;   Glomerulocystic kidney disease, hypoplastic type;   Glomerulocystic kidney, familial hypoplastic;   MODY5;   RCAD;   atypical FJHN;   atypical familial juvenile hyperuricemic nephropathy;   renal cysts and diabetes syndrome
 primary_id: MESH:C535520
 alt_id: OMIM:137920;   RDO:0000676
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
maturity-onset diabetes of the young type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:8554872
G Hnf1b HNF1 homeobox B JBrowse link 10 71,159,863 71,218,902 RGD:7240710
RGD:8554872
G Pax2 paired box 2 JBrowse link 1 264,493,579 264,585,073 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          maturity-onset diabetes of the young type 5 3
Path 2
Term Annotations click to browse term
  disease 0
    Nutritional and Metabolic Diseases 4632
      disease of metabolism 4632
        acquired metabolic disease 2729
          carbohydrate metabolism disease 1748
            glucose metabolism disease 1748
              diabetes mellitus 1355
                type 2 diabetes mellitus 650
                  maturity-onset diabetes of the young 23
                    maturity-onset diabetes of the young type 5 3
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.