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:type 1 diabetes mellitus 2
go back to main search page
Accession:DOID:0110741 term browser browse the term
Definition:A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. (DO)
Synonyms:exact_synonym: IDDM2;   T1D2;   insulin-dependent diabetes mellitus 2
 primary_id: MESH:C565100
 alt_id: OMIM:125852
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
type 1 diabetes mellitus 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2 insulin-like growth factor 2 ISS OMIM:125852 MouseDO NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 2 ClinVar PMID:17855560 PMID:18192540 PMID:18414213 PMID:25741868 NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by OMIM:125852
DNA:missense mutation:cds:p.C96Y (mouse)
ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 2
ClinVar
OMIM
PMID:17855560 PMID:18192540 PMID:18414213 PMID:25741868 PMID:17911348 RGD:14401710 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 2 ClinVar PMID:25741868 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Nutritional and Metabolic Diseases 5535
      disease of metabolism 5535
        inherited metabolic disorder 2619
          type 1 diabetes mellitus 2 4
Path 2
Term Annotations click to browse term
  disease 17205
    Nutritional and Metabolic Diseases 5535
      disease of metabolism 5535
        acquired metabolic disease 2894
          carbohydrate metabolism disease 1802
            glucose metabolism disease 1802
              diabetes mellitus 1407
                type 1 diabetes mellitus 312
                  type 1 diabetes mellitus 2 4
paths to the root