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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;   diabetes mellitus type II, autosomal dominant;   maturity-onset diabetes of the young, type II
 primary_id: MESH:C564219
 alt_id: OMIM:125851
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISO ClinVar Annotator: match by OMIM:125851
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 2
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 2
OMIM
ClinVar
CTD
PMID:1303265 PMID:1349989 PMID:1464666 PMID:1502186 PMID:1545870 PMID:1570017 PMID:7542040 PMID:7555485 PMID:8068341 PMID:8132752 PMID:8168652 PMID:8314448 PMID:8325892 PMID:8349034 PMID:8376578 PMID:8433729 PMID:8446612 PMID:8454109 PMID:8495817 PMID:8897004 PMID:8932999 PMID:9049484 PMID:9472859 PMID:9662401 PMID:9736233 PMID:10426385 PMID:10447526 PMID:10525657 PMID:10694920 PMID:10753050 PMID:10754480 PMID:11079754 PMID:11106831 PMID:11315828 PMID:11315850 PMID:11315851 PMID:11372010 PMID:11508276 PMID:11553210 PMID:11772903 PMID:11942313 PMID:12050210 PMID:12442280 PMID:12627330 PMID:12955723 PMID:14517946 PMID:14517956 PMID:15102714 PMID:15305805 PMID:15448103 PMID:15657605 PMID:15667334 PMID:15677479 PMID:15841481 PMID:15918042 PMID:15928245 PMID:16444761 PMID:16602010 PMID:16632067 PMID:16731834 PMID:16938872 PMID:16963153 PMID:16965331 PMID:17079173 PMID:17186219 PMID:17204055 PMID:17353190 PMID:17389332 PMID:17573900 PMID:17937063 PMID:18056790 PMID:18248649 PMID:18271687 PMID:18322640 PMID:18382660 PMID:18399931 PMID:18407139 PMID:18411240 PMID:18414213 PMID:18481947 PMID:19069349 PMID:19187021 PMID:19309449 PMID:19339519 PMID:19564454 PMID:19790256 PMID:19903754 PMID:20005544 PMID:20132997 PMID:20337973 PMID:20458967 PMID:21104275 PMID:21115832 PMID:21348868 PMID:21395678 PMID:21420961 PMID:21437567 PMID:21518409 PMID:21521320 PMID:21569204 PMID:21604084 PMID:21720051 PMID:21831042 PMID:21921030 PMID:22028181 PMID:22060211 PMID:22291974 PMID:22335469 PMID:22389783 PMID:22493702 PMID:22540858 PMID:22611063 PMID:22761713 PMID:22773699 PMID:22820548 PMID:23085272 PMID:23295292 PMID:23433541 PMID:23771172 PMID:24033266 PMID:24097065 PMID:24323243 PMID:24411943 PMID:24430320 PMID:24518839 PMID:24568320 PMID:24578721 PMID:24728127 PMID:24735133 PMID:24804978 PMID:24918535 PMID:25015100 PMID:25082184 PMID:25182307 PMID:25306193 PMID:25414397 PMID:25494859 PMID:25555642 PMID:25741868 PMID:25850297 PMID:26059258 PMID:26123671 PMID:26287533 PMID:26467025 PMID:26552609 PMID:26587058 PMID:27059371 PMID:27080136 PMID:27106716 PMID:27167055 PMID:27185633 PMID:27269892 PMID:27271189 PMID:27913849 PMID:27935851 PMID:28012402 PMID:28170077 PMID:28492532 PMID:28555465 PMID:28575730 PMID:28726111 PMID:28842611 PMID:29056535 PMID:29207974 PMID:29424410 PMID:29510678 PMID:30053375 PMID:30086370 PMID:30155490 PMID:30245511 PMID:30257192 PMID:30592380 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      endocrine system disease 5714
        diabetes mellitus 1395
          type 2 diabetes mellitus 728
            maturity-onset diabetes of the young 25
              maturity-onset diabetes of the young type 2 1
Path 2
Term Annotations click to browse term
  disease 16918
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        acquired metabolic disease 2820
          carbohydrate metabolism disease 1787
            glucose metabolism disease 1787
              diabetes mellitus 1395
                type 2 diabetes mellitus 728
                  maturity-onset diabetes of the young 25
                    maturity-onset diabetes of the young type 2 1
paths to the root