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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;   MODY5;   RCAD;   atypical FJHN;   atypical familial juvenile hyperuricemic nephropathy;   familial hypoplastic glomerulocystic kidney;   glomerulocystic kidney disease, hypoplastic type;   renal cysts and diabetes syndrome
 primary_id: MESH:C535520
 alt_id: OMIM:137920
 xref: NCI:C123018

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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: Renal cysts and diabetes syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936675:3,408,549...3,420,828 JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome OMIM
ClinVar		 PMID:2624270 PMID:2976441 PMID:7151342 PMID:9398836 PMID:9703339 More... NCBI chrNW_004936490:649,551...702,448
Ensembl chrNW_004936490:649,546...702,672 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome ClinVar PMID:12891685 PMID:14662519 PMID:14705128 PMID:14872018 PMID:15219840 More... NCBI chrNW_004936623:2,422,780...2,436,817
Ensembl chrNW_004936623:2,422,833...2,436,817 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome ClinVar PMID:27657687 NCBI chrNW_004936600:4,850,594...4,939,010
Ensembl chrNW_004936600:4,850,552...4,928,214 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome ClinVar PMID:23778007 PMID:23992123 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936527:6,907,723...7,168,222
Ensembl chrNW_004936527:6,909,044...7,167,600 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          maturity-onset diabetes of the young type 5 5
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          inherited metabolic disorder 5214
            carbohydrate metabolic disorder 2562
              glucose metabolism disease 1424
                diabetes mellitus 1284
                  maturity-onset diabetes of the young 101
                    maturity-onset diabetes of the young type 5 5
paths to the root