Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 6
go back to main search page
Accession:DOID:0111104 term browser browse the term
Definition:A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: MODY, type 6;   MODY6;   maturity-onset diabetes of the young, type VI
 primary_id: MESH:C565231
 alt_id: OMIM:606394
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
maturity-onset diabetes of the young type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neurod1 neuronal differentiation 1 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 6 OMIM
ClinVar
PMID:10545951 PMID:12639765 PMID:16321269 PMID:18414213 PMID:25741868 More... NCBI chr 3:64,360,222...64,363,526
Ensembl chr 3:64,359,395...64,363,649
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      endocrine system disease 6197
        diabetes mellitus 1494
          maturity-onset diabetes of the young 55
            maturity-onset diabetes of the young type 6 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13067
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11805
        genetic disease 11316
          inherited metabolic disorder 4685
            carbohydrate metabolic disorder 2581
              glucose metabolism disease 1892
                diabetes mellitus 1494
                  maturity-onset diabetes of the young 55
                    maturity-onset diabetes of the young type 6 1
paths to the root