MCID: MYD002
MIFTS: 49

Myd88 Deficiency

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Myd88 Deficiency

MalaCards integrated aliases for Myd88 Deficiency:

Name: Myd88 Deficiency 53 49 24 55 71 28 69
Pyogenic Bacterial Infections Due to Myd88 Deficiency 49 24 55
Myd88d 53 71
Pyogenic Bacterial Infections, Recurrent, Due to Myd88 Deficiency 36

Characteristics:

Orphanet epidemiological data:

55
pyogenic bacterial infections due to myd88 deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood;

Classifications:

Orphanet: 55  
Rare immunological diseases


External Ids:

OMIM 53 612260
Orphanet 55 ORPHA183713
UMLS via Orphanet 70 C2677092
ICD10 via Orphanet 33 D84.8
MedGen 39 C2677092
KEGG 36 H00721
SNOMED-CT via HPO 65 386661006 50177009 234532001
UMLS 69 C2677092

Summaries for Myd88 Deficiency

Genetics Home Reference : 24 MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This primary immunodeficiency affects the innate immune response, which is the body's early, nonspecific response to foreign invaders (pathogens). MyD88 deficiency leads to abnormally frequent and severe infections by a subset of bacteria known as pyogenic bacteria. (Infection with pyogenic bacteria causes the production of pus.) However, affected individuals have normal resistance to other common bacteria, viruses, fungi, and parasites. The most common infections in MyD88 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent by about age 10.

MalaCards based summary : Myd88 Deficiency, also known as pyogenic bacterial infections due to myd88 deficiency, is related to plasma protein metabolism disease and ocular toxoplasmosis, and has symptoms including fever, immunodeficiency and recurrent bacterial skin infections. An important gene associated with Myd88 Deficiency is MYD88 (Myeloid Differentiation Primary Response 88), and among its related pathways/superpathways are Apoptosis and Toll-like receptor signaling pathway. Affiliated tissues include myeloid, skin and t cells, and related phenotypes are hematopoietic system and adipose tissue

NIH Rare Diseases : 49 MYD88 deficiency is a rare primary immunodeficiency characterized by an increased susceptibility to certain types of bacterial infections. People affected by this condition generally have abnormally frequent and life-threatening infections caused by pyogenic bacteria (such as Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa). However, their immune response to other common bacteria, viruses, fungi, and parasites is normal. MYD88 deficiency is caused by changes (mutations) in the MYD88 gene and is inherited in an autosomal recessive manner. Management is focused on the prevention and early treatment of infections with appropriate antibiotics. Last updated: 6/18/2015

UniProtKB/Swiss-Prot : 71 MYD88 deficiency: Patients suffer from autosomal recessive, life-threatening, often recurrent pyogenic bacterial infections, including invasive pneumococcal disease, and die between 1 and 11 months of age. Surviving patients are otherwise healthy, with normal resistance to other microbes, and their clinical status improved with age.

Wikipedia : 72 Myeloid differentiation primary response 88 (MYD88) is a protein that, in humans, is encoded by the... more...

Description from OMIM: 612260

Related Diseases for Myd88 Deficiency

Diseases related to Myd88 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 plasma protein metabolism disease 10.3 BTK MYD88
2 ocular toxoplasmosis 10.3 TLR1 TLR5
3 prosthetic joint infection 10.3 TLR2 TLR4
4 trench fever 10.2 TLR2 TLR4
5 invasive pneumococcal disease, recurrent isolated, 1 10.2 IRAK4 TIRAP
6 acute cervicitis 10.2 TLR2 TLR4
7 mesenteric lymphadenitis 10.2 MYD88 TLR2
8 mycobacterium abscessus 10.2 TLR1 TLR2
9 alveolar echinococcosis 10.2 TLR2 TLR4
10 ariboflavinosis 10.1 TLR4 TLR6
11 neisseria meningitidis infection 10.1 TLR2 TLR4
12 myositis fibrosa 10.1 MYD88 TLR2 TLR4
13 pleuropneumonia 10.1 IRAK4 MYD88
14 suppurative otitis media 10.1 TLR2 TLR4 TLR5
15 septic arthritis 10.1 TLR2 TLR4
16 ileitis 10.1 TLR2 TLR4 TLR5
17 legionnaires' disease 10.0 TLR4 TLR5 TLR6
18 scrub typhus 10.0 TLR2 TLR4
19 q fever 10.0 TLR1 TLR2 TLR4
20 pneumonia 10.0 TLR2 TLR4 TLR5
21 neurosyphilis 10.0 TLR1 TLR2 TLR6
22 bacteriuria 9.9 TIRAP TLR1 TLR4
23 lyme disease 9.9 TLR1 TLR2 TLR6
24 mycobacterium chelonae 9.9 CD14 TLR2
25 legionellosis 9.9 MYD88 TLR2 TLR4 TLR5
26 mycobacterium kansasii 9.9 CD14 TLR2
27 mycobacterium tuberculosis 1 9.8 MYD88 TLR1 TLR2 TLR4
28 middle ear disease 9.8 TLR2 TLR4
29 penicilliosis 9.7 TLR1 TLR2 TLR4 TLR6
30 invasive aspergillosis 9.7 TLR1 TLR2 TLR4 TLR6
31 filariasis 9.7 TLR1 TLR2 TLR4 TLR6
32 aortic aneurysm, familial abdominal, 1 9.7
33 alzheimer disease 9.7
34 blood group, i system 9.7
35 anxiety 9.7
36 chlamydia 9.7
37 lymphadenitis 9.7
38 aortic aneurysm 9.7
39 syphilis 9.7
40 amyloidosis 9.7
41 aneurysm 9.7
42 melioidosis 9.4 LY96 TLR1 TLR2 TLR4 TLR5
43 pelvic inflammatory disease 9.3 TIRAP TLR1 TLR2 TLR4 TLR6
44 malaria 9.3 CD36 MYD88 TIRAP TLR2 TLR4
45 irak4 deficiency 7.0 BTK CD14 CD36 IRAK4 LY96 MYD88

Graphical network of the top 20 diseases related to Myd88 Deficiency:



Diseases related to Myd88 Deficiency

Symptoms & Phenotypes for Myd88 Deficiency

Clinical features from OMIM:

612260

Human phenotypes related to Myd88 Deficiency:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 55 31 occasional (7.5%) Occasional (29-5%) HP:0001945
2 immunodeficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0002721
3 recurrent bacterial skin infections 55 31 frequent (33%) Frequent (79-30%) HP:0005406

MGI Mouse Phenotypes related to Myd88 Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.93 MYD88 TIRAP TLR1 TLR2 TLR4 TLR5
2 adipose tissue MP:0005375 9.8 CD14 CD36 MYD88 TLR2 TLR4 TLR5
3 digestive/alimentary MP:0005381 9.73 TLR2 TLR4 TLR5 BTK CD36 MYD88
4 homeostasis/metabolism MP:0005376 9.61 BTK CD14 CD36 IRAK4 MYD88 TIRAP
5 immune system MP:0005387 9.4 BTK CD14 CD36 IRAK4 LY96 MYD88

Drugs & Therapeutics for Myd88 Deficiency

Search Clinical Trials , NIH Clinical Center for Myd88 Deficiency

Genetic Tests for Myd88 Deficiency

Genetic tests related to Myd88 Deficiency:

# Genetic test Affiliating Genes
1 Myd88 Deficiency 28 MYD88

Anatomical Context for Myd88 Deficiency

MalaCards organs/tissues related to Myd88 Deficiency:

38
Myeloid, Skin, T Cells, Nk Cells, Kidney, Salivary Gland, Monocytes

Publications for Myd88 Deficiency

Articles related to Myd88 Deficiency:

(show all 19)
# Title Authors Year
1
Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis. ( 26632527 )
2016
2
Natural Killer Cell Sensing of Infected Cells Compensates for MyD88 Deficiency but Not IFN-I Activity in Resistance to Mouse Cytomegalovirus. ( 25954804 )
2015
3
Recipient Myd88 Deficiency Promotes Spontaneous Resolution of Kidney Allograft Rejection. ( 25788530 )
2015
4
IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens. ( 25320238 )
2014
5
MyD88 deficiency alters expression of antimicrobial factors in mouse salivary glands. ( 25415419 )
2014
6
The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands. ( 23857504 )
2013
7
MyD88 deficiency markedly worsens tissue inflammation and bacterial clearance in mice infected with Treponema pallidum, the agent of syphilis. ( 23940747 )
2013
8
The effects of MyD88 deficiency on exploratory activity, anxiety, motor coordination, and spatial learning in C57BL/6 and APPswe/PS1dE9 mice. ( 22051943 )
2012
9
MyD88 deficiency results in both cognitive and motor impairments in mice. ( 22401992 )
2012
10
MyD88 deficiency attenuates angiotensin II-induced abdominal aortic aneurysm formation independent of signaling through Toll-like receptors 2 and 4. ( 21960563 )
2011
11
MyD88 deficiency leads to decreased NK cell gamma interferon production and T cell recruitment during Chlamydia muridarum genital tract infection, but a predominant Th1 response and enhanced monocytic inflammation are associated with infection resolution. ( 21078858 )
2011
12
Myd88 deficiency influences murine tracheal epithelial metaplasia and submucosal gland abundance. ( 21557220 )
2011
13
MyD88 deficiency ameliorates I^-amyloidosis in an animal model of Alzheimer's disease. ( 21763676 )
2011
14
Myeloid differentiation factor 88 (MyD88)-deficiency increases risk of diabetes in mice. ( 20824098 )
2010
15
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. ( 21057262 )
2010
16
Myeloid differentiation primary response gene 88 (MyD88) deficiency in a large kindred. ( 20538326 )
2010
17
Pyogenic bacterial infections in humans with MyD88 deficiency. ( 18669862 )
2008
18
MyD88 deficiency results in tissue-specific changes in cytokine induction and inflammation in interleukin-18-independent mice infected with Borrelia burgdorferi. ( 16495516 )
2006
19
MyD88 deficiency enhances acquisition and transmission of Borrelia burgdorferi by Ixodes scapularis ticks. ( 16552045 )
2006

Variations for Myd88 Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Myd88 Deficiency:

71
# Symbol AA change Variation ID SNP ID
1 MYD88 p.Leu93Pro VAR_047953
2 MYD88 p.Arg196Cys VAR_047954

ClinVar genetic disease variations for Myd88 Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYD88 NM_001172567.1(MYD88): c.625C> T (p.Arg209Cys) single nucleotide variant Pathogenic rs137853064 GRCh38 Chromosome 3, 38140510: 38140510
2 MYD88 MYD88, 3-BP DEL, 160GAG deletion Pathogenic
3 MYD88 NM_001172567.1(MYD88): c.317T> C (p.Leu106Pro) single nucleotide variant Pathogenic rs137853065 GRCh37 Chromosome 3, 38180469: 38180469
4 MYD88 NM_001172567.1(MYD88): c.16_34del19 (p.Ala6Profs) deletion Pathogenic GRCh37 Chromosome 3, 38180168: 38180186

Expression for Myd88 Deficiency

Search GEO for disease gene expression data for Myd88 Deficiency.

Pathways for Myd88 Deficiency

Pathways related to Myd88 Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Apoptosis hsa04210
2 Toll-like receptor signaling pathway hsa04620

Pathways related to Myd88 Deficiency according to GeneCards Suite gene sharing:

(show all 46)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 BTK CD14 CD36 IRAK4 LY96 MYD88
2
Show member pathways
13.64 BTK CD14 CD36 IRAK4 LY96 MYD88
3
Show member pathways
13.52 BTK CD14 CD36 IRAK4 LY96 MYD88
4
Show member pathways
13.41 BTK IRAK4 MYD88 TIRAP TLR1 TLR2
5
Show member pathways
13.41 BTK CD14 CD36 LY96 MYD88 TIRAP
6
Show member pathways
13.21 BTK CD14 IRAK4 MYD88 TLR1 TLR2
7
Show member pathways
12.92 BTK CD14 CD36 IRAK4 LY96 MYD88
8
Show member pathways
12.74 IRAK4 MYD88 TLR1 TLR2 TLR4 TLR5
9
Show member pathways
12.69 IRAK4 MYD88 TLR2 TLR4
10 12.6 BTK CD14 IRAK4 MYD88 TLR1 TLR2
11
Show member pathways
12.53 BTK CD14 IRAK4 LY96 MYD88 TIRAP
12
Show member pathways
12.51 MYD88 TIRAP TLR2 TLR4
13
Show member pathways
12.51 CD14 IRAK4 LY96 MYD88 TIRAP TLR4
14
Show member pathways
12.48 CD14 LY96 TLR4 TLR5
15
Show member pathways
12.43 BTK CD14 CD36 IRAK4 LY96 MYD88
16
Show member pathways
12.33 CD14 IRAK4 LY96 MYD88 TIRAP TLR4
17
Show member pathways
12.32 IRAK4 LY96 MYD88 TLR2 TLR4
18
Show member pathways
12.3 BTK CD14 CD36 LY96 MYD88 TIRAP
19
Show member pathways
12.29 BTK CD14 LY96 TLR4
20 12.26 TLR1 TLR2 TLR4 TLR5 TLR6
21 12.26 CD14 IRAK4 MYD88 TIRAP TLR1 TLR2
22 12.22 CD14 CD36 TLR2 TLR4 TLR6
23 12.15 TLR1 TLR2 TLR4 TLR5 TLR6
24
Show member pathways
12.12 TLR1 TLR2 TLR4 TLR5 TLR6
25
Show member pathways
12.02 TLR1 TLR2 TLR4 TLR5 TLR6
26
Show member pathways
11.96 TLR1 TLR2 TLR4 TLR5 TLR6
27 11.95 BTK CD14 IRAK4 LY96 MYD88 TIRAP
28
Show member pathways
11.94 CD14 LY96 MYD88 TLR4
29 11.92 TLR1 TLR2 TLR4 TLR5 TLR6
30 11.9 CD14 MYD88 TLR4 TLR5
31 11.87 CD14 IRAK4 LY96 MYD88 TIRAP TLR4
32
Show member pathways
11.87 CD14 IRAK4 LY96 MYD88 TIRAP TLR1
33 11.85 CD14 TLR2 TLR4
34
Show member pathways
11.81 CD14 IRAK4 LY96 MYD88 TIRAP TLR1
35 11.8 BTK CD14 IRAK4 LY96 MYD88 TLR4
36 11.78 CD36 TLR2 TLR4 TLR5
37 11.68 IRAK4 MYD88 TIRAP
38 11.68 CD14 LY96 MYD88 TLR4
39 11.66 CD14 MYD88 TLR2 TLR4 TLR5
40 11.63 CD36 MYD88 TLR2 TLR4
41 11.42 CD14 CD36 LY96 TLR4
42 11.25 MYD88 TLR1 TLR2
43 11.24 CD14 TLR4
44 11.23 CD14 LY96 TLR4
45 11.02 MYD88 TLR2
46 10.91 CD14 LY96 TLR4

GO Terms for Myd88 Deficiency

Cellular components related to Myd88 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 BTK CD14 CD36 IRAK4 LY96 MYD88
2 cell surface GO:0009986 9.76 CD14 CD36 TLR2 TLR4
3 endosome membrane GO:0010008 9.65 CD14 IRAK4 LY96 MYD88 TLR4
4 receptor complex GO:0043235 9.61 CD36 TLR4 TLR6
5 phagocytic vesicle membrane GO:0030670 9.58 TLR1 TLR2 TLR6
6 intrinsic component of plasma membrane GO:0031226 9.5 LY96 TLR2 TLR4
7 Toll-like receptor 1-Toll-like receptor 2 protein complex GO:0035354 9.37 TLR1 TLR2
8 lipopolysaccharide receptor complex GO:0046696 9.13 CD14 LY96 TLR4
9 membrane raft GO:0045121 9.1 BTK CD14 CD36 TLR1 TLR2 TLR6

Biological processes related to Myd88 Deficiency according to GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Name GO ID Score Top Affiliating Genes
1 defense response to Gram-positive bacterium GO:0050830 9.98 CD36 MYD88 TIRAP TLR2
2 apoptotic signaling pathway GO:0097190 9.96 BTK CD14 LY96 TLR4
3 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.95 BTK CD14 LY96 TLR4
4 positive regulation of interleukin-6 production GO:0032755 9.94 CD36 MYD88 TLR2 TLR4
5 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.93 BTK CD14 CD36 IRAK4 LY96 MYD88
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.92 CD36 TIRAP TLR4
7 positive regulation of nitric oxide biosynthetic process GO:0045429 9.92 CD36 TLR4 TLR5 TLR6
8 lipopolysaccharide-mediated signaling pathway GO:0031663 9.92 CD14 LY96 MYD88 TLR2 TLR4
9 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.92 BTK CD36 IRAK4 MYD88 TIRAP TLR2
10 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.91 CD14 LY96 TLR4 TLR6
11 cellular response to mechanical stimulus GO:0071260 9.9 MYD88 TLR4 TLR5
12 positive regulation of interleukin-8 production GO:0032757 9.9 TIRAP TLR2 TLR4 TLR5
13 positive regulation of JNK cascade GO:0046330 9.89 MYD88 TIRAP TLR4
14 positive regulation of interleukin-12 production GO:0032735 9.89 CD36 TIRAP TLR2 TLR4
15 cellular response to amyloid-beta GO:1904646 9.86 CD36 TLR4 TLR6
16 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.86 CD14 LY96 TLR4
17 necroptotic process GO:0070266 9.85 CD14 LY96 TLR4
18 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.85 MYD88 TLR4 TLR6
19 toll-like receptor 4 signaling pathway GO:0034142 9.85 CD14 LY96 TIRAP TLR4
20 regulation of cytokine secretion GO:0050707 9.85 TLR1 TLR2 TLR4 TLR5 TLR6
21 cell activation GO:0001775 9.84 TLR1 TLR2 TLR6
22 negative regulation of growth of symbiont in host GO:0044130 9.84 CD36 MYD88 TIRAP
23 positive regulation of interleukin-8 secretion GO:2000484 9.83 CD14 TLR1 TLR2
24 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.83 CD36 TLR4 TLR6
25 interleukin-1 beta secretion GO:0050702 9.82 CD36 TLR4 TLR6
26 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.81 TIRAP TLR1 TLR6
27 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.81 CD36 MYD88 TLR4 TLR6
28 negative regulation of MyD88-independent toll-like receptor signaling pathway GO:0034128 9.8 CD14 LY96 TLR4
29 toll-like receptor TLR6:TLR2 signaling pathway GO:0038124 9.8 CD14 CD36 TLR2 TLR6
30 cellular response to lipoteichoic acid GO:0071223 9.8 CD14 CD36 TIRAP TLR2 TLR4
31 positive regulation of tumor necrosis factor production GO:0032760 9.8 CD14 CD36 LY96 MYD88 TIRAP TLR2
32 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.79 CD36 TLR4 TLR6
33 cellular response to diacyl bacterial lipopeptide GO:0071726 9.78 CD14 CD36 TLR2 TLR6
34 cellular response to bacterial lipopeptide GO:0071221 9.76 CD36 TIRAP TLR2
35 response to bacterium GO:0009617 9.75 CD14 TLR4
36 positive regulation of interferon-beta production GO:0032728 9.75 TLR2 TLR4
37 positive regulation of interleukin-10 production GO:0032733 9.75 TLR2 TLR4
38 toll-like receptor TLR1:TLR2 signaling pathway GO:0038123 9.75 CD14 TLR1 TLR2
39 positive regulation of NF-kappaB import into nucleus GO:0042346 9.74 TLR2 TLR4
40 positive regulation of chemokine production GO:0032722 9.74 TLR2 TLR4
41 3-UTR-mediated mRNA stabilization GO:0070935 9.74 MYD88 TIRAP
42 activation of NF-kappaB-inducing kinase activity GO:0007250 9.74 TIRAP TLR6
43 response to fatty acid GO:0070542 9.74 CD36 TLR2
44 toll-like receptor 9 signaling pathway GO:0034162 9.74 IRAK4 MYD88
45 positive regulation of macrophage activation GO:0043032 9.74 TLR4 TLR6
46 cellular response to triacyl bacterial lipopeptide GO:0071727 9.74 CD14 TLR1 TLR2
47 microglial cell activation GO:0001774 9.73 TLR2 TLR6
48 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.73 TLR2 TLR4
49 response to molecule of bacterial origin GO:0002237 9.73 CD14 TLR2
50 I-kappaB phosphorylation GO:0007252 9.73 TLR2 TLR4

Molecular functions related to Myd88 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.8 TIRAP TLR1 TLR2 TLR4 TLR6
2 receptor binding GO:0005102 9.78 BTK MYD88 TLR4 TLR6
3 transmembrane signaling receptor activity GO:0004888 9.76 TLR1 TLR4 TLR5 TLR6
4 receptor activity GO:0004872 9.73 TLR1 TLR2 TLR4 TLR6
5 lipopolysaccharide binding GO:0001530 9.54 CD14 TLR2 TLR4
6 interleukin-1 receptor binding GO:0005149 9.5 IRAK4 MYD88 TLR5
7 Toll-like receptor binding GO:0035325 9.43 CD36 MYD88 TLR2
8 lipopolysaccharide receptor activity GO:0001875 9.33 LY96 TLR2 TLR4
9 Toll-like receptor 2 binding GO:0035663 9.13 TIRAP TLR1 TLR6
10 lipopeptide binding GO:0071723 8.92 CD14 TLR1 TLR2 TLR6

Sources for Myd88 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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