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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
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Accession:DOID:0050524 term browser browse the term
Definition:A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects. (DO)
Synonyms:exact_synonym: MODY;   Mason-type diabetes;   maturity-onset diabetes mellitus in young
 primary_id: MESH:C562772
 alt_id: OMIM:606391
 xref: GARD:3697;   ICD10CM:E11.8;   NCI:C114769;   ORDO:552
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
maturity-onset diabetes of the young term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar Annotator: match by term: Mason type diabetes
ClinVar PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 More... NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young ClinVar NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031
JBrowse link
G Edem2 ER degradation enhancing alpha-mannosidase like protein 2 ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar NCBI chr 3:144,201,604...144,227,423
Ensembl chr 3:144,201,605...144,227,485
JBrowse link
G Gck glucokinase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar PMID:1464666 PMID:1502186 PMID:8068341 PMID:8168652 PMID:8446612 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 ClinVar Annotator: match by term: Maturity onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar 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 Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:11845238 PMID:15660195 PMID:22432796 PMID:25536396 PMID:25700310 More... NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar PMID:9267996 PMID:9313765 PMID:9449683 PMID:10983627 PMID:15793260 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:25741868 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: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar Annotator: match by term: Maturity onset diabetes of the young
ClinVar PMID:12610512 PMID:25741868 PMID:26467025 PMID:28492532 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
ISS
ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar Annotator: match by term: Maturity onset diabetes of the young
OMIM:606391
ClinVar
MouseDO
PMID:12610512 PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 More... NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar Annotator: match by term: Mason type diabetes
ClinVar PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
G Klf11 Kruppel-like factor 11 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young ClinVar PMID:25741868 NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550
JBrowse link
G Mafa MAF bZIP transcription factor A ISS OMIM:606391 MouseDO NCBI chr 7:107,432,292...107,435,061
Ensembl chr 7:107,433,605...107,434,690
JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:25741868 NCBI chr19:39,278,123...39,304,555
Ensembl chr19:39,276,785...39,304,502
JBrowse link
G Neurod1 neuronal differentiation 1 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar PMID:28492532 NCBI chr 3:64,360,222...64,363,526
Ensembl chr 3:64,359,395...64,363,649
JBrowse link
G Pax4 paired box 4 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar PMID:15509590 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISS
ISO
OMIM:606391
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
MouseDO
ClinVar
PMID:10545530 PMID:10545531 PMID:10720084 PMID:11022198 PMID:11270685 More... NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
JBrowse link
G Tgm2 transglutaminase 2 ISS OMIM:606391 MouseDO NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar Annotator: match by term: Maturity onset diabetes of the young
ClinVar PMID:12610512 PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 More... NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link
Fanconi renotubular syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young OMIM
ClinVar
PMID:20164212 PMID:22802087 PMID:24285859 PMID:25741868 PMID:25819479 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
JBrowse link
maturity-onset diabetes of the young type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 1 ClinVar PMID:18003757 PMID:20393147 PMID:23348805 PMID:24033266 PMID:25741868 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 1
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:125850
OMIM
ClinVar
CTD
PMID:193395 PMID:8945471 PMID:9294105 PMID:9313765 PMID:9371825 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
JBrowse link
maturity-onset diabetes of the young type 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 10 ClinVar PMID:12610512 PMID:17855560 PMID:18162506 PMID:18192540 PMID:20226046 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 ClinVar Annotator: match by OMIM:613370
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 10
ClinVar
OMIM
PMID:12610512 PMID:17855560 PMID:18162506 PMID:18192540 PMID:20226046 More... 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: Maturity-onset diabetes of the young, type 10 ClinVar PMID:12610512 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link
maturity-onset diabetes of the young type 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 11
ClinVar Annotator: match by OMIM:613375
OMIM
ClinVar
PMID:18414213 PMID:19667185 PMID:24033266 PMID:25741868 PMID:28095440 More... NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031
JBrowse link
G Fam167a family with sequence similarity 167, member A ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 11 ClinVar PMID:19667185 NCBI chr15:37,685,221...37,715,472
Ensembl chr15:37,700,919...37,715,469
JBrowse link
maturity-onset diabetes of the young type 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 13
ClinVar Annotator: match by term: MODY, TYPE 13
ClinVar PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 More... NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 13
ClinVar Annotator: match by term: MODY, TYPE 13
OMIM
ClinVar
PMID:8897013 PMID:9867219 PMID:10338089 PMID:11318841 PMID:11872696 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
maturity-onset diabetes of the young type 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 14 ClinVar
OMIM
PMID:26073777 NCBI chr16:2,118,503...2,166,741
Ensembl chr16:2,121,255...2,166,692
JBrowse link
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 term: Maturity-onset diabetes of the young, type 2
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:125851
OMIM
ClinVar
CTD
PMID:1303265 PMID:1349989 PMID:1464666 PMID:1502186 PMID:1545870 More... NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
maturity-onset diabetes of the young type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 3
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:600496
OMIM
ClinVar
CTD
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 RGD1311899 similar to RIKEN cDNA 2210016L21 gene ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 3 ClinVar PMID:10482964 PMID:10588527 PMID:12488962 PMID:24728327 PMID:26467025 More... NCBI chr12:41,672,114...41,677,722
Ensembl chr12:41,672,114...41,677,714
JBrowse link
maturity-onset diabetes of the young type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdx1 pancreatic and duodenal homeobox 1 ISO ClinVar Annotator: match by OMIM:606392
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 4
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 4
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:10545530 More... NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
JBrowse link
maturity-onset diabetes of the young type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:25741868 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome
ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney
ClinVar Annotator: match by OMIM:137920
OMIM
ClinVar
PMID:2624270 PMID:7151342 PMID:9398836 PMID:9703339 PMID:10484768 More... NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:12891685 PMID:14662519 PMID:14705128 PMID:14872018 PMID:15219840 More... NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:27657687 NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:23778007 PMID:23992123 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142
JBrowse link
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
ClinVar Annotator: match by OMIM:606394
OMIM
ClinVar
PMID:10545951 PMID:16321269 PMID:18414213 PMID:25741868 PMID:28492532 More... NCBI chr 3:64,360,222...64,363,526
Ensembl chr 3:64,359,395...64,363,649
JBrowse link
maturity-onset diabetes of the young type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf11 Kruppel-like factor 11 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 7
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 7
ClinVar Annotator: match by OMIM:610508
OMIM
ClinVar
PMID:15774581 PMID:17130512 PMID:18593768 PMID:19122346 PMID:19843526 More... NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550
JBrowse link
maturity-onset diabetes of the young type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 8
ClinVar Annotator: match by OMIM:609812
OMIM
ClinVar
PMID:16369531 PMID:18414213 PMID:25741868 NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
JBrowse link
maturity-onset diabetes of the young type 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax4 paired box 4 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 9
ClinVar Annotator: match by OMIM:612225
OMIM
ClinVar
PMID:17426099 NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        inherited metabolic disorder 2633
          maturity-onset diabetes of the young 27
            Fanconi renotubular syndrome 4 1
            maturity-onset diabetes of the young type 1 2
            maturity-onset diabetes of the young type 10 3
            maturity-onset diabetes of the young type 11 2
            maturity-onset diabetes of the young type 13 2
            maturity-onset diabetes of the young type 14 1
            maturity-onset diabetes of the young type 2 1
            maturity-onset diabetes of the young type 3 2
            maturity-onset diabetes of the young type 4 1
            maturity-onset diabetes of the young type 5 5
            maturity-onset diabetes of the young type 6 1
            maturity-onset diabetes of the young type 7 1
            maturity-onset diabetes of the young type 8 1
            maturity-onset diabetes of the young type 9 1
Path 2
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        acquired metabolic disease 2896
          carbohydrate metabolism disease 1801
            glucose metabolism disease 1801
              diabetes mellitus 1407
                type 2 diabetes mellitus 729
                  maturity-onset diabetes of the young 27
                    Fanconi renotubular syndrome 4 1
                    maturity-onset diabetes of the young type 1 2
                    maturity-onset diabetes of the young type 10 3
                    maturity-onset diabetes of the young type 11 2
                    maturity-onset diabetes of the young type 13 2
                    maturity-onset diabetes of the young type 14 1
                    maturity-onset diabetes of the young type 2 1
                    maturity-onset diabetes of the young type 3 2
                    maturity-onset diabetes of the young type 4 1
                    maturity-onset diabetes of the young type 5 5
                    maturity-onset diabetes of the young type 6 1
                    maturity-onset diabetes of the young type 7 1
                    maturity-onset diabetes of the young type 8 1
                    maturity-onset diabetes of the young type 9 1
paths to the root