MODY
MCID: MTR004
MIFTS: 63

Maturity-Onset Diabetes of the Young (MODY) malady

Summaries for Maturity-Onset Diabetes of the Young

About this section
Sources:
8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:63 Maturity onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes caused... more...

MalaCards: Maturity-Onset Diabetes of the Young, also known as MODY, is related to diabetes mellitus and pancreatitis. An important gene associated with Maturity-Onset Diabetes of the Young is GCK (glucokinase (hexokinase 4)), and among its related pathways are Regulation of beta-cell development and Type II diabetes mellitus. The drugs acetohexamide and chlorpropamide and the compounds glucose and c-peptide have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and kidney, and related mouse phenotypes are growth/size and homeostasis/metabolism.

Disease Ontology:8 A genetic disease that has material basis in mutations in the mody genes disrupting insulin production.

Description from OMIM:46 610508, 125850, 613375, 612225, 606394 606392, 137920, 609812, 613370, 125851, 600496 more

Aliases & Classifications for Maturity-Onset Diabetes of the Young

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 10DISEASES, 60UMLS, 46OMIM
See all sources

Aliases & Descriptions:

maturity-onset diabetes of the young 8 42 20 10
mody 8 42
maturity onset diabetes mellitus in young 60
diabetes mellitus, non-insulin-dependent 60
mason type diabetes 42
mason-type diabetes 8


External Ids:

Disease Ontology8 DOID:0050524

Related Diseases for Maturity-Onset Diabetes of the Young

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Maturity-Onset Diabetes of the Young, Type 1 family:

maturity-onset diabetes of the young Maturity-Onset Diabetes of the Young, Type 8
Maturity-Onset Diabetes of the Young, Type 2 Maturity-Onset Diabetes of the Young, Type 3
Maturity-Onset Diabetes of the Young, Type 4 Maturity-Onset Diabetes of the Young, Type 6
Maturity-Onset Diabetes of the Young, Type 7 Maturity-Onset Diabetes of the Young, Type 9
Maturity-Onset Diabetes of the Young, Type 5 Maturity-Onset Diabetes of the Young, Type 11
Maturity-Onset Diabetes of the Young, Type 10

Diseases related to Maturity-Onset Diabetes of the Young via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus31.1GCKR, GCK, HNF1A, HNF4A, HNF1B, PDX1
2pancreatitis31.1INS, CELA3B, CEL
3hypoglycemia31.0GCKR, GCK, HNF4A, INS
4hepatitis30.9HNF4A
5type 2 diabetes mellitus30.9FOXA2, ISL1, PDX1, HNF1B, HNF4A, HNF1A
6hyperinsulinemic hypoglycemia30.8INS, GCK
7obesity30.6GCKR, GCK, HNF1A, HNF4A, ISL1, FOXA2
8hyperglycemia30.4GCKR, GCK, HNF1A, HNF4A, HNF1B, PDX1
9hyperinsulinism30.4GCK, INS
10gestational diabetes30.4GCK, HNF1A, HNF4A, INS
11familial hyperinsulinism30.4GCK
12permanent neonatal diabetes mellitus30.4INS, GCK
13neonatal diabetes mellitus30.1GCK, HNF1B, PDX1, INS
14maturity-onset diabetes of the young, type 810.7
15maturity-onset diabetes of the young, type 110.7
16maturity-onset diabetes of the young, type 610.7
17maturity-onset diabetes of the young, type 710.7
18maturity-onset diabetes of the young, type 910.7
19maturity-onset diabetes of the young, type 210.7
20maturity-onset diabetes of the young, type 310.7
21maturity-onset diabetes of the young, type 410.7
22hepatitis a10.6
23renal cysts and diabetes syndrome10.5
24maturity-onset diabetes of the young type1010.5
25diabetic nephropathy10.4
26type 1 diabetes mellitus10.4
27maturity-onset diabetes of the young, type 510.4
28maturity-onset diabetes of the young type1110.4
29maturity-onset diabetes of the young, type 1110.4
30maturity-onset diabetes of the young, type 1010.4
31periodontal disease10.3
32periodontitis10.3
33insulin-resistance type b10.3
34diabetes mellitus, insulin-resistant, with acanthosis nigricans10.3
35diabetes, type 210.3
36rh-mod syndrome10.3
37short fifth metacarpals - insulin resistance10.3
38proliferative diabetic retinopathy10.3
39diabetic ketoacidosis10.3
40necrobiosis lipoidica10.3
41thyroid malformation10.3
42duodenitis10.3
43granuloma annulare10.3
44diabetic retinopathy10.3
45liver disease10.3
46thyroiditis10.3
47colorectal cancer10.3
48transient neonatal diabetes mellitus10.3
49monogenic diabetes10.3
50insulinoma10.0GCK, HNF1A, HNF4A, PDX1, INS, PAX4

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young:



Diseases related to maturity-onset diabetes of the young

Clinical Features for Maturity-Onset Diabetes of the Young

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

610508, 125850, 613375, 612225, 606394, 606392, 137920, 609812, 613370, 125851 600496 more

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Genetic Tests for Maturity-Onset Diabetes of the Young

About this section
Sources:
20GeneTests
See all sources

Genetic tests related to Maturity-Onset Diabetes of the Young:

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Multi-Gene Panels20

Anatomical Context for Maturity-Onset Diabetes of the Young

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young:

32
Testes, Liver, Kidney, Pancreas, Uterus, Thyroid

Animal Models for Maturity-Onset Diabetes of the Young or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537810.9CEL, GCK, HNF1A, HNF4A, HNF1B, PDX1
2MP:000537610.8HNF1B, HNF4A, HNF1A, GCK, GCKR, PDX1
3MP:000537010.8GCK, HNF1A, HNF4A, HNF1B, PDX1, FOXA2
4MP:000537910.8GCK, HNF1A, HNF1B, PDX1, ISL1, FOXA2
5MP:001076810.8PDX1, HNF1B, HNF4A, HNF1A, GCK, ISL1
6MP:000538110.7HNF1A, PDX1, ISL1, FOXA2, NEUROD1, INS
7MP:000536710.7GCK, HNF1A, HNF1B, PDX1, NEUROD1, INS
8MP:000287310.6KLF11, HNF4A, PDX1, ISL1, FOXA2, BLK
9MP:000536910.6ACVR2B, INS, ISL1, PDX1, HNF1B, HNF1A
10MP:000538410.5HNF1A, HNF4A, PDX1, ISL1, FOXA2, NEUROD1
11MP:000538010.3HNF4A, HNF1B, ISL1, FOXA2, INS, ACVR2B

Publications for Maturity-Onset Diabetes of the Young

About this section
Sources:
50PubMed
See all sources

Articles related to Maturity-Onset Diabetes of the Young:

(show top 50)    (show all 257)
idTitleAuthorsYear
1
GCK Mutation in a Child with Maturity Onset Diabetes of the Young, Type 2. (23724189)
2013
2
Maturity-onset diabetes of the young and hepatic adenomatosis - characterisation of a new mutation. (23616187)
2013
3
Arteriovascular calcification leading to diagnosis of maturity-onset diabetes of the young type 3. (23582135)
2013
4
Derivation of human induced pluripotent stem cells from patients with maturity onset diabetes of the young. (23306198)
2013
5
Effects of hepatocyte nuclear factor-1A and -4A on pancreatic stone protein/regenerating protein and C-reactive protein gene expression: implications for maturity-onset diabetes of the young. (23803251)
2013
6
Maturity onset diabetes of the young: clinical characteristics, diagnosis and management. (23539835)
2012
7
Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of the HNF1A gene. (21677039)
2011
8
Maturity-Onset Diabetes of the Young (MODY) caused by a novel nonsense mutation E41X in the HNF-1I+ gene. (20690076)
2011
9
Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations. (20724646)
2010
10
A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2. (20015564)
2010
11
Clinically-Defined Maturity Onset Diabetes of the Young in Omanis: Absence of the common Caucasian gene mutations. (21509085)
2010
12
Hepatocyte nuclear factor (HNF)1A and HNF4A substitution occurring simultaneously in a family with maturity-onset diabetes of the young. (19929997)
2009
13
Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus. (18811724)
2009
14
Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients. (18322640)
2008
15
Novel glucokinase mutation in a boy with maturity-onset diabetes of the young]. (19069349)
2008
16
Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5. (17440011)
2007
17
PAX4 mutations in Thais with maturity onset diabetes of the young. (17426099)
2007
18
Improved prandial glucose control with lower risk of hypoglycemia with nateglinide than with glibenclamide in patients with maturity-onset diabetes of the young type 3. (16443858)
2006
19
Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability. (16173921)
2006
20
Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY). (15841481)
2005
21
'I don't feel like a diabetic any more': the impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing. (15139733)
2004
22
Promoter-specific repression of hepatocyte nuclear factor (HNF)-1beta and HNF-1alpha transcriptional activity by an HNF-1beta missense mutant associated with type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations. (15001636)
2004
23
A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program. (15102714)
2004
24
The role of transcription factors in maturity-onset diabetes of the young. (12359128)
2002
25
Rare variants identified in the HNF- 4 alpha beta-cell-specific promoter and alternative exon 1 lack biological significance in maturity onset diabetes of the young and young onset Type II diabetes. (12242469)
2002
26
Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young. (11485019)
2001
27
Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization. (11554773)
2001
28
Hepatocyte nuclear factor-4alpha involved in type 1 maturity-onset diabetes of the young is a novel target of AMP-activated protein kinase. (11423471)
2001
29
Predictive genetic testing in maturity-onset diabetes of the young (MODY). (11472455)
2001
30
No evidence for linkage or for diabetes-associated mutations in the activin type 2B receptor gene (ACVR2B) in French patients with mature-onset diabetes of the young or type 2 diabetes. (11334431)
2001
31
Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter. (10967107)
2000
32
Beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the hepatocyte nuclear factor-3beta gene (HNF3B) in Japanese patients with maturity-onset diabetes of the young. (10868948)
2000
33
Phenotypic characteristics of early-onset autosomal-dominant type 2 diabetes unlinked to known maturity-onset diabetes of the young (MODY) genes. (10333942)
1999
34
Maturity-onset diabetes of the young (MODY): a new challenge for pediatric diabetologists. (10417964)
1999
35
Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia. (9713013)
1998
36
Mutations in the genes of the HNF-family cause maturity-onset diabetes of the young (MODY)]. (9780731)
1998
37
Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K. (9648841)
1998
38
Abnormal regulation of hepatic glucose output in maturity-onset diabetes of the young caused by a specific mutation of the glucokinase gene. (9000695)
1997
39
An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor- 1alpha gene (maturity-onset diabetes of the young). (9392505)
1997
40
Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3). (9097962)
1997
41
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity- onset diabetes of the young (MODY3). (8945470)
1996
42
Mitochondrial FAD-glycerophosphate dehydrogenase and G-protein-coupled inwardly rectifying K+ channel: No evidence for linkage in maturity-onset diabetes of the young or NIDDM. (8621016)
1996
43
Nonradioactive screening of glucokinase mutations in maturity onset diabetes of the young. (8068341)
1994
44
Non-linkage of the glucagon-like peptide 1 receptor gene with maturity onset diabetes of the young. (7958545)
1994
45
Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity onset diabetes of the young. (1354782)
1992
46
Maturity onset diabetes of the young in a Saudi child: Case report and review of the literature. (17590827)
1991
47
Proliferative diabetic retinopathy in a patient with maturity-onset diabetes of the young (MODY). (2527686)
1989
48
C-Peptide responses to glucose load in maturity-onset diabetes of the young (MODY). (3882370)
1985
49
Insulin gene analysis in a family with maturity-onset diabetes of the young. (2981749)
1985
50
Diabetic nephropathy in a patient with maturity-onset diabetes of the young. (7235789)
1981

Genetic Variations for Maturity-Onset Diabetes of the Young

About this section

Expression for genes affiliated with Maturity-Onset Diabetes of the Young

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Maturity-Onset Diabetes of the Young

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young.

Pathways for genes affiliated with Maturity-Onset Diabetes of the Young

About this section
Sources:
53Reactome, 29KEGG, 49PharmGKB, 37NCBI BioSystems Database, 4Cell Signaling Technology, 51QIAGEN, 12EMD Millipore
See all sources

Pathways related to Maturity-Onset Diabetes of the Young according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.6PAX4, GCK, INS, NEUROD1, FOXA2, PDX1
2
Hide members
10.6GCK, HNF1A, HNF4A, HNF1B, PDX1, ISL1
310.6GCK, HNF1A, HNF4A, PDX1, FOXA2, INS
410.6HNF1A, HNF4A, PDX1, FOXA2, NEUROD1, INS
5
Hide members
10.6KCNRG, KCTD4, GCK, HNF4A, FOXA2, NEUROD1
6
Hide members
10.6GCK, HNF4A, HNF1B, PDX1, NEUROD1
710.5INS, PDX1, HNF1B, HNF1A
810.5INS, PDX1, GCK
910.5INS, FOXA2, ISL1
1010.5NEUROD1, ISL1, HNF4A
11
Dichloroethylene metabolism
Hide members
10.5HNF1A, HNF4A
12
Hide members
10.5PAX4, ACVR2A, ACVR2B
1310.5NEUROD1, PAX4
14
Hide members
10.5ACVR2A, ACVR2B

Compounds for genes affiliated with Maturity-Onset Diabetes of the Young

About this section
Sources:
44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 28IUPHAR
See all sources

Compounds related to Maturity-Onset Diabetes of the Young according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1glucose4411.1PAX4, KLF11, GCKR, GCK, HNF1A, HNF4A
2c-peptide4411.0GCK, HNF1A, HNF4A, PDX1, FOXA2, INS
3glycogen44 2411.9GCKR, GCK, HNF4A, FOXA2, PPP1R3B, INS
4sulfonylurea4410.9INS, PDX1, HNF1A, GCK
5katp4410.9GCK, PDX1, FOXA2, INS
6fatty acid4410.9GCK, HNF1A, HNF4A, FOXA2, INS, CEL
7retinoic acid44 2411.9GCK, HNF1A, HNF4A, HNF1B, PDX1, NEUROD1
8preproinsulin4410.9INS, PDX1, GCK
9i-app4410.9GCK, PDX1, INS
10incretin4410.9INS, PDX1, GCK
11proglucagon4410.9ISL1, PDX1, GCK
12repaglinide44 49 1112.9NEUROD1, INS, PAX4
13cholesterol44 28 11 2413.9GCK, HNF1A, HNF4A, HNF1B, INS, CEL
14oligonucleotide4410.8GCK, HNF1A, HNF4A, HNF1B, PDX1, CEL
15nnmt4410.8HNF1A, HNF1B
16mannitol-1-phosphate4410.8GCKR, GCK
17tolbutamide44 49 28 1113.8INS, HNF1A, GCK
18mannoheptulose4410.8GCKR, GCK
19glycerol44 11 2412.8GCK, HNF4A, INS, CEL
20chromium picolinate4410.8INS, GCK
21nicotinamide44 1111.8HNF1B, PDX1, INS
22streptozotocin4410.8GCK, PDX1, INS
23pyruvate4410.7PDX1, HNF4A, HNF1A, GCK
24fructose 1-phosphate44 2411.7GCKR, GCK
25threonine4410.7GCK, HNF4A, PDX1, ACVR2B, ACVR2A, CEL
26phosphoenolpyruvate44 1111.6HNF4A, HNF1A, GCK
27myristic acid44 11 2412.6HNF4A, INS, CEL
28uric acid44 2411.5INS, HNF1B, GCKR
29digitonin4410.5BLK, GCK
30fructose-6-phosphate44 1111.4GCK, GCKR
31serine4410.3GCK, HNF4A, PDX1, INS, ACVR2B, ACVR2A

GO Terms for genes affiliated with Maturity-Onset Diabetes of the Young

About this section
Sources:
16Gene Ontology
See all sources

Biological processes related to Maturity-Onset Diabetes of the Young according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1endocrine pancreas developmentGO:03101811.0PAX4, GCK, HNF1A, HNF4A, HNF1B, PDX1
2glucose homeostasisGO:04259311.0GCK, HNF1A, HNF4A, PDX1, FOXA2, NEUROD1
3negative regulation of transcription from RNA polymerase II promoterGO:00012211.0KLF11, HNF1A, HNF1B, PDX1, ISL1, FOXA2
4positive regulation of transcription from RNA polymerase II promoterGO:04594410.9HNF1A, HNF4A, HNF1B, PDX1, ISL1, FOXA2
5regulation of insulin secretionGO:05079610.9INS, NEUROD1, HNF4A, HNF1A, GCK
6insulin secretionGO:03007310.9HNF1A, HNF1B, PDX1, NEUROD1, ACVR2B
7response to glucose stimulusGO:00974910.9HNF1A, HNF4A, HNF1B, NEUROD1, ACVR2B
8positive regulation of insulin secretionGO:03202410.9GCK, PDX1, ISL1, BLK
9signal transduction involved in regulation of gene expressionGO:02301910.9NEUROD1, FOXA2, HNF4A
10anterior/posterior pattern specificationGO:00995210.9HNF1B, NEUROD1, ACVR2B, ACVR2A
11positive regulation of cell differentiationGO:04559710.9PAX4, INS, NEUROD1
12regulation of pronephros sizeGO:03556510.8HNF1A, HNF1B
13negative regulation of glucokinase activityGO:03313210.8GCKR, FOXA2
14detection of glucoseGO:05159410.8PDX1, GCK
15positive regulation of transcription, DNA-dependentGO:04589310.8HNF1A, HNF4A, HNF1B, FOXA2, NEUROD1
16glucose transportGO:01575810.8GCKR, GCK, INS
17positive regulation of activin receptor signaling pathwayGO:03292710.8ACVR2A, ACVR2B
18positive regulation of transcription initiation from RNA polymerase II promoterGO:06026110.8HNF1B, HNF1A
19negative regulation of gluconeogenesisGO:04572110.8INS, GCK
20transmembrane receptor protein serine/threonine kinase signaling pathwayGO:00717810.8ACVR2A, ACVR2B
21positive regulation of glycolysisGO:04582110.8GCK, INS
22cellular glucose homeostasisGO:00167810.7GCK, GCKR
23regulation of Wnt receptor signaling pathwayGO:03011110.7HNF1B, HNF1A
24neuron fate specificationGO:04866510.7FOXA2, ISL1
25positive regulation of glycogen biosynthetic processGO:04572510.7GCK, INS
26nitric oxide mediated signal transductionGO:00726310.6NEUROD1, PDX1
27SMAD protein signal transductionGO:06039510.6HNF4A, HNF1A
28triglyceride homeostasisGO:07032810.5GCKR, HNF4A
29gastrulation with mouth forming secondGO:00170210.5ACVR2A, ACVR2B
30pancreas developmentGO:03101610.4ISL1, ACVR2B
31positive regulation of DNA bindingGO:04338810.2ISL1, PDX1

Molecular functions related to Maturity-Onset Diabetes of the Young according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00370010.9PAX4, KLF11, HNF1A, HNF4A, HNF1B, PDX1
2transcription regulatory region DNA bindingGO:04421210.8KLF11, HNF1A, HNF4A, HNF1B, FOXA2
3double-stranded DNA bindingGO:00369010.8PAX4, NEUROD1, FOXA2, HNF1A
4RNA polymerase II activating transcription factor bindingGO:00110210.7HNF4A, ISL1, NEUROD1
5sequence-specific DNA bindingGO:04356510.7HNF1A, HNF4A, HNF1B, NEUROD1, PAX4
6inhibin bindingGO:03471110.7ACVR2A, ACVR2B
7transcription factor bindingGO:00813410.7NEUROD1, FOXA2, PDX1, HNF1A
8receptor signaling protein serine/threonine kinase activityGO:00470210.6ACVR2A, ACVR2B
9RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00370510.6HNF4A, HNF1B, FOXA2
10RNA polymerase II transcription coactivator activityGO:00110510.5NEUROD1, ISL1
11activin bindingGO:04818510.5ACVR2A, ACVR2B
12transforming growth factor beta-activated receptor activityGO:00502410.4ACVR2A, ACVR2B
13protein heterodimerization activityGO:04698210.2HNF1A, HNF1B, PDX1, NEUROD1

Products for genes affiliated with Maturity-Onset Diabetes of the Young

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Maturity-Onset Diabetes of the Young

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet