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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 3
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Accession:DOID:0111102 term browser browse the term
Definition:A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: MODY, Type 3;   MODY3
 primary_id: MESH:C563933
 alt_id: MIM:600496



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maturity-onset diabetes of the young type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12h12orf43 similar to human chromosome 12 open reading frame 43 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 ClinVar PMID:9075818 PMID:9392505 PMID:9562352 PMID:9626139 PMID:10333057 More... NCBI chr12:41,672,089...41,677,722
Ensembl chr12:41,672,114...41,677,714
JBrowse link
G Gck glucokinase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 ClinVar PMID:1464666 PMID:1502186 PMID:8068341 PMID:8446612 PMID:9049484 More... NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
G Hnf1a HNF1 homeobox A ISO
ISS
ClinVar Annotator: match by term: MODY type 3 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3
CTD Direct Evidence: marker/mechanism
OMIM:600496
OMIM
ClinVar
CTD
MouseDO
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 ClinVar PMID:25741868 PMID:36257325 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19057
    disease of anatomical entity 18393
      endocrine system disease 6890
        diabetes mellitus 1660
          maturity-onset diabetes of the young 106
            maturity-onset diabetes of the young type 3 4
Path 2
Term Annotations click to browse term
  disease 19057
    Developmental Disease 14528
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13541
        genetic disease 13203
          inherited metabolic disorder 6602
            carbohydrate metabolic disorder 3407
              glucose metabolism disease 2155
                diabetes mellitus 1660
                  maturity-onset diabetes of the young 106
                    maturity-onset diabetes of the young type 3 4
paths to the root