MODY11
MCID: MTR039
MIFTS: 38

Maturity-Onset Diabetes of the Young, Type 11 (MODY11)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 11

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 11:

Name: Maturity-Onset Diabetes of the Young, Type 11 57 29 13 6 70
Mody11 57 12 72
Maturity-Onset Diabetes of the Young Type 11 12 15
Diabetes of the Young, Maturity-Onset, Type 11 39
Maturity-Onset Diabetes of the Young 11 72
Mody Type 11 72
Mody-11 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
some patients require insulin for treatment


HPO:

31
maturity-onset diabetes of the young, type 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111109
OMIM® 57 613375
MeSH 44 D003924
MedGen 41 C3150618
UMLS 70 C3150618

Summaries for Maturity-Onset Diabetes of the Young, Type 11

UniProtKB/Swiss-Prot : 72 Maturity-onset diabetes of the young 11: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 11, also known as mody11, is related to maturity-onset diabetes of the young and keratolytic winter erythema. An important gene associated with Maturity-Onset Diabetes of the Young, Type 11 is BLK (BLK Proto-Oncogene, Src Family Tyrosine Kinase), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Hepatic ABC Transporters. Related phenotypes are diabetes mellitus and obesity

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in heterozygous mutation in the BLK gene on chromosome 8p23-p22.

More information from OMIM: 613375

Related Diseases for Maturity-Onset Diabetes of the Young, Type 11

Diseases in the Maturity-Onset Diabetes of the Young family:

Maturity-Onset Diabetes of the Young, Type 1 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 10
Maturity-Onset Diabetes of the Young, Type 11 Maturity-Onset Diabetes of the Young, Type 13
Maturity-Onset Diabetes of the Young, Type 14

Diseases related to Maturity-Onset Diabetes of the Young, Type 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 28.3 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
2 keratolytic winter erythema 10.2 FAM167A BLK
3 munchausen by proxy 10.1 KCNJ11 ABCC8
4 factitious disorder 10.1 KCNJ11 ABCC8
5 type 1 diabetes mellitus 11 10.1 PDX1 NEUROD1
6 acute insulin response 10.1 KCNJ11 ABCC8
7 hyperinsulinemic hypoglycemia, familial, 7 10.0 KCNJ11 ABCC8
8 cardiomyopathy, dilated, 1o 10.0 KCNJ11 ABCC8
9 asphyxia neonatorum 10.0 KCNJ11 ABCC8
10 hyperinsulinemic hypoglycemia, familial, 6 10.0 KCNJ11 ABCC8
11 coronary artery vasospasm 10.0 KCNJ11 ABCC8
12 cantu syndrome 10.0 KCNJ11 ABCC8
13 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.9 KCNJ11 ABCC8
14 diabetes mellitus, ketosis-prone 9.9 PAX4 KCNJ11 ABCC8
15 umbilical hernia 9.9 KCNJ11 ABCC8
16 pancreatic cystadenoma 9.9 PDX1 NEUROD1 ABCC8
17 glucose intolerance 9.8 NEUROD1 KCNJ11 ABCC8
18 diabetes mellitus, permanent neonatal, 1 9.8 PDX1 KCNJ11 ABCC8
19 exocrine pancreatic insufficiency 9.7 PDX1 CEL
20 hyperinsulinemic hypoglycemia, familial, 1 9.7 KCNJ11 ABCC8
21 insulinoma 9.7 PDX1 PAX4 NEUROD1 ABCC8
22 hyperinsulinemic hypoglycemia, familial, 2 9.6 KCNJ11 HNF4A ABCC8
23 transient neonatal diabetes mellitus 9.6 PDX1 NEUROD1 KCNJ11 ABCC8
24 gestational diabetes 9.6 KCNJ11 HNF4A ABCC8
25 maturity-onset diabetes of the young, type 14 9.6 PDX1 PAX4 NEUROD1 KLF11 BLK
26 hyperinsulinism 9.5 KCNJ11 HNF4A ABCC8
27 type 1 diabetes mellitus 9.4 PDX1 PAX4 NEUROD1 HNF4A
28 hyperinsulinemic hypoglycemia 9.4 PDX1 KCNJ11 HNF4A ABCC8
29 neonatal diabetes 8.9 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF1B
30 hyperglycemia 8.8 PDX1 PAX4 KCNJ11 HNF4A HNF1B ABCC8
31 maturity-onset diabetes of the young, type 13 8.7 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
32 pancreatic agenesis 8.7 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
33 permanent neonatal diabetes mellitus 8.7 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
34 type 2 diabetes mellitus 8.6 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
35 monogenic diabetes 8.6 PDX1 KLF11 KCNJ11 HNF4A HNF1B CEL
36 maturity-onset diabetes of the young, type 1 8.3 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
37 renal cysts and diabetes syndrome 8.3 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
38 maturity-onset diabetes of the young, type 10 8.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
39 maturity-onset diabetes of the young, type 9 8.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
40 maturity-onset diabetes of the young, type 7 8.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
41 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 8.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
42 maturity-onset diabetes of the young, type 6 8.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
43 maturity-onset diabetes of the young, type 4 8.0 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
44 maturity-onset diabetes of the young, type 3 8.0 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
45 maturity-onset diabetes of the young, type 2 8.0 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
46 diabetes mellitus 8.0 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 11:



Diseases related to Maturity-Onset Diabetes of the Young, Type 11

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 11

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 11:

31
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 31 HP:0000819
2 obesity 31 HP:0001513
3 maturity-onset diabetes of the young 31 HP:0004904
4 overweight 31 HP:0025502

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
diabetes mellitus

Growth Weight:
obesity
overweight

Clinical features from OMIM®:

613375 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 11:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 ABCC8 BLK HNF1B HNF4A KCNJ11 NEUROD1
2 homeostasis/metabolism MP:0005376 9.32 ABCC8 BLK CEL HNF1B HNF4A KCNJ11

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 11

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 11

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 11

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 11:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 11 29 BLK

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 11

Publications for Maturity-Onset Diabetes of the Young, Type 11

Articles related to Maturity-Onset Diabetes of the Young, Type 11:

# Title Authors PMID Year
1
Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. 57 6
19667185 2009
2
Identification of a locus for maturity-onset diabetes of the young on chromosome 8p23. 57
15111509 2004
3
A rare combination of MODY5 and duodenal atresia in a patient: a case report. 61
32028929 2020

Variations for Maturity-Onset Diabetes of the Young, Type 11

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 11:

6 (show top 50) (show all 91)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BLK , FAM167A NC_000008.9:g.11369157G>A SNV Pathogenic 12322 rs886037620 GRCh37: 8:11331747-11331747
GRCh38: 8:11474238-11474238
2 BLK NM_001715.2(BLK):c.*505G>T SNV Pathogenic 12323 rs886037621 GRCh37: 8:11422122-11422122
GRCh38: 8:11564613-11564613
3 BLK NM_001715.3(BLK):c.343C>T (p.Arg115Ter) SNV Pathogenic 998366 GRCh37: 8:11406606-11406606
GRCh38: 8:11549097-11549097
4 BLK NM_001715.3(BLK):c.1471del (p.Glu491fs) Deletion Pathogenic 1033443 GRCh37: 8:11421569-11421569
GRCh38: 8:11564060-11564060
5 BLK NC_000008.11:g.11573132C>T SNV Conflicting interpretations of pathogenicity 12321 rs61199332 GRCh37: 8:11430641-11430641
GRCh38: 8:11573132-11573132
6 BLK NM_001715.3(BLK):c.1208C>T (p.Ala403Val) SNV Uncertain significance 361494 rs139210041 GRCh37: 8:11420515-11420515
GRCh38: 8:11563006-11563006
7 BLK NM_001715.3(BLK):c.1351G>A (p.Gly451Ser) SNV Uncertain significance 361497 rs199605698 GRCh37: 8:11421450-11421450
GRCh38: 8:11563941-11563941
8 BLK NM_001715.3(BLK):c.*376C>T SNV Uncertain significance 361505 rs886062601 GRCh37: 8:11421993-11421993
GRCh38: 8:11564484-11564484
9 BLK NM_001715.3(BLK):c.*324G>A SNV Uncertain significance 361503 rs886062600 GRCh37: 8:11421941-11421941
GRCh38: 8:11564432-11564432
10 BLK NM_001715.3(BLK):c.892C>T (p.Arg298Ter) SNV Uncertain significance 361488 rs745877998 GRCh37: 8:11414286-11414286
GRCh38: 8:11556777-11556777
11 BLK NM_001715.3(BLK):c.*289G>A SNV Uncertain significance 361502 rs886062599 GRCh37: 8:11421906-11421906
GRCh38: 8:11564397-11564397
12 BLK NM_001715.3(BLK):c.1308C>T (p.Tyr436=) SNV Uncertain significance 361495 rs886062596 GRCh37: 8:11420615-11420615
GRCh38: 8:11563106-11563106
13 BLK NM_001715.3(BLK):c.-124C>T SNV Uncertain significance 361470 rs886062593 GRCh37: 8:11351978-11351978
GRCh38: 8:11494469-11494469
14 BLK NM_001715.3(BLK):c.-203C>T SNV Uncertain significance 361467 rs886062592 GRCh37: 8:11351899-11351899
GRCh38: 8:11494390-11494390
15 BLK NM_001715.3(BLK):c.1089G>A (p.Ala363=) SNV Uncertain significance 361492 rs55836779 GRCh37: 8:11418870-11418870
GRCh38: 8:11561361-11561361
16 BLK NM_001715.3(BLK):c.639C>T (p.Cys213=) SNV Uncertain significance 361483 rs779263158 GRCh37: 8:11412860-11412860
GRCh38: 8:11555351-11555351
17 BLK NM_001715.3(BLK):c.1046C>T (p.Ala349Val) SNV Uncertain significance 361490 rs759976637 GRCh37: 8:11418827-11418827
GRCh38: 8:11561318-11561318
18 BLK NM_001715.3(BLK):c.153G>A (p.Pro51=) SNV Uncertain significance 361474 rs746710451 GRCh37: 8:11403590-11403590
GRCh38: 8:11546081-11546081
19 BLK NM_001715.3(BLK):c.1120T>G (p.Cys374Gly) SNV Uncertain significance 361493 rs886062595 GRCh37: 8:11418901-11418901
GRCh38: 8:11561392-11561392
20 BLK NM_001715.3(BLK):c.311G>T (p.Arg104Ile) SNV Uncertain significance 361478 rs142298864 GRCh37: 8:11406574-11406574
GRCh38: 8:11549065-11549065
21 BLK NM_001715.3(BLK):c.571C>A (p.Pro191Thr) SNV Uncertain significance 361481 rs769895420 GRCh37: 8:11412350-11412350
GRCh38: 8:11554841-11554841
22 BLK NM_001715.3(BLK):c.*161C>G SNV Uncertain significance 361499 rs886062597 GRCh37: 8:11421778-11421778
GRCh38: 8:11564269-11564269
23 BLK NM_001715.3(BLK):c.164A>G (p.His55Arg) SNV Uncertain significance 619206 rs202053568 GRCh37: 8:11403601-11403601
GRCh38: 8:11546092-11546092
24 BLK NM_001715.3(BLK):c.-76G>A SNV Uncertain significance 908999 GRCh37: 8:11352026-11352026
GRCh38: 8:11494517-11494517
25 BLK NM_001715.3(BLK):c.-47C>T SNV Uncertain significance 909000 GRCh37: 8:11352055-11352055
GRCh38: 8:11494546-11494546
26 BLK NM_001715.3(BLK):c.620-11C>T SNV Uncertain significance 909058 GRCh37: 8:11412830-11412830
GRCh38: 8:11555321-11555321
27 BLK NM_001715.3(BLK):c.129C>A (p.Val43=) SNV Uncertain significance 909864 GRCh37: 8:11403566-11403566
GRCh38: 8:11546057-11546057
28 BLK NM_001715.3(BLK):c.773-9C>T SNV Uncertain significance 909914 GRCh37: 8:11414158-11414158
GRCh38: 8:11556649-11556649
29 BLK NM_001715.3(BLK):c.810G>A (p.Thr270=) SNV Uncertain significance 909915 GRCh37: 8:11414204-11414204
GRCh38: 8:11556695-11556695
30 BLK NM_001715.3(BLK):c.824C>T (p.Thr275Ile) SNV Uncertain significance 909916 GRCh37: 8:11414218-11414218
GRCh38: 8:11556709-11556709
31 BLK NM_001715.3(BLK):c.*229G>C SNV Uncertain significance 909970 GRCh37: 8:11421846-11421846
GRCh38: 8:11564337-11564337
32 BLK NM_001715.3(BLK):c.*271G>A SNV Uncertain significance 909971 GRCh37: 8:11421888-11421888
GRCh38: 8:11564379-11564379
33 BLK NM_001715.3(BLK):c.*366G>A SNV Uncertain significance 909972 GRCh37: 8:11421983-11421983
GRCh38: 8:11564474-11564474
34 BLK NM_001715.3(BLK):c.677A>C (p.Gln226Pro) SNV Uncertain significance 909060 GRCh37: 8:11412898-11412898
GRCh38: 8:11555389-11555389
35 BLK NM_001715.3(BLK):c.*42A>G SNV Uncertain significance 909126 GRCh37: 8:11421659-11421659
GRCh38: 8:11564150-11564150
36 BLK NM_001715.3(BLK):c.*130G>T SNV Uncertain significance 909127 GRCh37: 8:11421747-11421747
GRCh38: 8:11564238-11564238
37 BLK NM_001715.3(BLK):c.*209C>G SNV Uncertain significance 909128 GRCh37: 8:11421826-11421826
GRCh38: 8:11564317-11564317
38 BLK NM_001715.3(BLK):c.*214C>T SNV Uncertain significance 909129 GRCh37: 8:11421831-11421831
GRCh38: 8:11564322-11564322
39 BLK NM_001715.3(BLK):c.1142T>C (p.Leu381Ser) SNV Uncertain significance 910817 GRCh37: 8:11418923-11418923
GRCh38: 8:11561414-11561414
40 BLK NM_001715.3(BLK):c.*461G>A SNV Uncertain significance 910866 GRCh37: 8:11422078-11422078
GRCh38: 8:11564569-11564569
41 BLK NM_001715.3(BLK):c.-201G>A SNV Uncertain significance 911925 GRCh37: 8:11351901-11351901
GRCh38: 8:11494392-11494392
42 BLK NM_001715.3(BLK):c.84C>A (p.Val28=) SNV Uncertain significance 1029524 GRCh37: 8:11400817-11400817
GRCh38: 8:11543308-11543308
43 BLK NC_000008.11:g.11564608G>T SNV Uncertain significance 910867 GRCh37: 8:11422117-11422117
GRCh38: 8:11564608-11564608
44 BLK NM_001715.3(BLK):c.1252G>A (p.Val418Met) SNV Uncertain significance 912037 GRCh37: 8:11420559-11420559
GRCh38: 8:11563050-11563050
45 BLK NM_001715.3(BLK):c.1374C>T (p.Asp458=) SNV Uncertain significance 912038 GRCh37: 8:11421473-11421473
GRCh38: 8:11563964-11563964
46 BLK NM_001715.3(BLK):c.1411G>C (p.Glu471Gln) SNV Uncertain significance 912039 GRCh37: 8:11421510-11421510
GRCh38: 8:11564001-11564001
47 BLK NM_001715.3(BLK):c.980A>T (p.Asp327Val) SNV Likely benign 910816 GRCh37: 8:11415498-11415498
GRCh38: 8:11557989-11557989
48 BLK NM_001715.3(BLK):c.1302G>A (p.Val434=) SNV Likely benign 258176 rs145686279 GRCh37: 8:11420609-11420609
GRCh38: 8:11563100-11563100
49 BLK NM_001715.3(BLK):c.177C>G (p.Asp59Glu) SNV Likely benign 361475 rs146083915 GRCh37: 8:11405542-11405542
GRCh38: 8:11548033-11548033
50 BLK NM_001715.3(BLK):c.465C>G (p.Thr155=) SNV Likely benign 911982 GRCh37: 8:11407764-11407764
GRCh38: 8:11550255-11550255

Expression for Maturity-Onset Diabetes of the Young, Type 11

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 11.

Pathways for Maturity-Onset Diabetes of the Young, Type 11

GO Terms for Maturity-Onset Diabetes of the Young, Type 11

Cellular components related to Maturity-Onset Diabetes of the Young, Type 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.43 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

Biological processes related to Maturity-Onset Diabetes of the Young, Type 11 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.97 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 cell differentiation GO:0030154 9.93 PDX1 PAX4 NEUROD1 HNF4A BLK
3 positive regulation of transcription, DNA-templated GO:0045893 9.88 PDX1 NEUROD1 HNF4A HNF1B
4 negative regulation of transcription, DNA-templated GO:0045892 9.86 PDX1 PAX4 KLF11 HNF4A
5 glucose homeostasis GO:0042593 9.61 PDX1 NEUROD1 HNF4A
6 positive regulation of cell differentiation GO:0045597 9.58 PAX4 NEUROD1
7 response to glucose GO:0009749 9.58 PDX1 NEUROD1 HNF4A
8 positive regulation of insulin secretion GO:0032024 9.57 PDX1 BLK
9 negative regulation of insulin secretion GO:0046676 9.55 KCNJ11 ABCC8
10 signal transduction involved in regulation of gene expression GO:0023019 9.52 NEUROD1 HNF4A
11 nitric oxide mediated signal transduction GO:0007263 9.51 PDX1 NEUROD1
12 insulin secretion GO:0030073 9.5 PDX1 NEUROD1 HNF1B
13 inorganic cation transmembrane transport GO:0098662 9.48 KCNJ11 ABCC8
14 hepatocyte differentiation GO:0070365 9.46 HNF4A HNF1B
15 regulation of insulin secretion GO:0050796 9.46 NEUROD1 KCNJ11 HNF4A ABCC8
16 pancreas development GO:0031016 9.43 PDX1 PAX4 HNF1B
17 response to drug GO:0042493 9.43 PDX1 PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
18 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.37 PDX1 NEUROD1
19 endocrine pancreas development GO:0031018 8.92 PDX1 PAX4 NEUROD1 HNF1B

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
3 DNA-binding transcription factor activity GO:0003700 9.72 PDX1 NEUROD1 KLF11 HNF4A HNF1B
4 sequence-specific DNA binding GO:0043565 9.71 PDX1 NEUROD1 HNF4A HNF1B
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.63 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
6 RNA polymerase II activating transcription factor binding GO:0001102 9.46 NEUROD1 HNF4A
7 cation-transporting ATPase activity GO:0019829 9.37 KCNJ11 ABCC8
8 sequence-specific double-stranded DNA binding GO:1990837 9.02 PDX1 PAX4 NEUROD1 KLF11 HNF4A
9 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 KCNJ11 ABCC8

Sources for Maturity-Onset Diabetes of the Young, Type 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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