Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
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;   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: MIM:137920
 xref: NCI:C123018


show annotations for term's descendants           Sort by:
maturity-onset diabetes of the young type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:25741868 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Hnf1b HNF1 homeobox B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome		 OMIM
CTD
ClinVar		 PMID:2624270 PMID:2976441 PMID:7151342 PMID:9398836 PMID:9703339 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: Renal cysts and diabetes syndrome 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: Renal cysts and diabetes syndrome 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: Renal cysts and diabetes syndrome ClinVar PMID:23778007 PMID:23992123 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 4:10,010,890...10,252,155
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 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          maturity-onset diabetes of the young type 5 6
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          inherited metabolic disorder 6620
            carbohydrate metabolic disorder 3414
              glucose metabolism disease 2158
                diabetes mellitus 1665
                  maturity-onset diabetes of the young 107
                    maturity-onset diabetes of the young type 5 6
paths to the root