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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:maturity-onset diabetes of the young type 5
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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
 xref: NCI:C123018
For additional species annotation, visit the Alliance of Genome Resources.



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maturity-onset diabetes of the young type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:25741868 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome
ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney
ClinVar Annotator: match by OMIM:137920
OMIM
ClinVar
PMID:2624270 PMID:7151342 PMID:9398836 PMID:9703339 PMID:10484768 More... NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:12891685 PMID:14662519 PMID:14705128 PMID:14872018 PMID:15219840 More... NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:27657687 NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:23778007 PMID:23992123 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          maturity-onset diabetes of the young type 5 5
Path 2
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        acquired metabolic disease 2896
          carbohydrate metabolism disease 1801
            glucose metabolism disease 1801
              diabetes mellitus 1407
                type 2 diabetes mellitus 729
                  maturity-onset diabetes of the young 27
                    maturity-onset diabetes of the young type 5 5
paths to the root