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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 2
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Accession:DOID:0111100 term browser browse the term
Definition:A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13. (DO)
Synonyms:exact_synonym: MODY, Glucokinase-Related;   MODY, type 2;   MODY, type II;   MODY2;   maturity-onset diabetes of the young, type II
 primary_id: MESH:C564219
 alt_id: OMIM:125851


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maturity-onset diabetes of the young type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCK glucokinase IAGP
EXP
ISS		 ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2
CTD Direct Evidence: marker/mechanism
OMIM:125851
ClinVar Annotator: match by term: MODY glucokinase-related | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2		 ClinVar
OMIM
CTD
MouseDO		 PMID:1303265 PMID:1349989 PMID:1354782 PMID:1360036 PMID:1397713 More... NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2 ClinVar NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G UCP2 uncoupling protein 2 IAGP ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2 ClinVar NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,672...73,982,843 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    disease of anatomical entity 32492
      endocrine system disease 7753
        diabetes mellitus 1831
          maturity-onset diabetes of the young 122
            maturity-onset diabetes of the young type 2 3
Path 2
Term Annotations click to browse term
  disease 35753
    Developmental Disease 28609
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24645
        genetic disease 23839
          inherited metabolic disorder 7909
            carbohydrate metabolic disorder 3660
              glucose metabolism disease 2042
                diabetes mellitus 1831
                  maturity-onset diabetes of the young 122
                    maturity-onset diabetes of the young type 2 3
paths to the root