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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:type 1 diabetes mellitus 2
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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.


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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: Type 1 diabetes mellitus 2 ClinVar PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 More... 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 DNA:missense mutation:cds:p.C96Y (mouse)
ClinVar Annotator: match by term: Type 1 diabetes mellitus 2		 OMIM
ClinVar
RGD		 PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 More... 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: Type 1 diabetes mellitus 2 ClinVar PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 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 20983
    Nutritional and Metabolic Diseases 8322
      disease of metabolism 8322
        inherited metabolic disorder 6273
          type 1 diabetes mellitus 2 4
Path 2
Term Annotations click to browse term
  disease 20983
    Developmental Disease 18229
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18059
        genetic disease 17979
          inherited metabolic disorder 6273
            carbohydrate metabolic disorder 3294
              glucose metabolism disease 1998
                diabetes mellitus 1598
                  type 1 diabetes mellitus 379
                    type 1 diabetes mellitus 2 4
paths to the root