Irak4 Deficiency

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Irak4 Deficiency

MalaCards integrated aliases for Irak4 Deficiency:

Name: Irak4 Deficiency 53 49 24 55 71 28 13 69
Interleukin-1 Receptor-Associated Kinase 4 Deficiency 24 69
Irak-4 Deficiency 49 24
Irak4d 53 71
Immunodeficiency Due to Interleukin-1 Receptor-Associated Kinase-4 Deficiency 55
Interleukin Receptor-Associated Kinase Deficiency 49
Interleukin 1 Receptor-Associated Kinase 4 13


Orphanet epidemiological data:

immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;


Orphanet: 55  
Rare immunological diseases

External Ids:

OMIM 53 607676
Orphanet 55 ORPHA70592
UMLS via Orphanet 70 C1843256
ICD10 via Orphanet 33 D84.8
MedGen 39 C1843256
SNOMED-CT via HPO 65 165517008 234532001

Summaries for Irak4 Deficiency

NIH Rare Diseases : 49 IRAK-4 deficiency is a condition that affects the immune system (primary immunodeficiency). It causes recurring severe infections by a type of bacteria called pyogenic bacteria. Individuals with IRAK-4 deficiency seem to be particularly susceptible to infections caused by bacteria called Streptococcus pneumoniae. The deficiency is caused by mutations in the IRAK4 gene and is inherited in an autosomal recessive pattern. Treatment may include intravenous immunoglobulin therapy (IVIG), taking antibiotics before an infection develops, and vaccines. Althought the infections can be life-threatening, they tend to occur less often as a person gets older. Last updated: 9/20/2013

MalaCards based summary : Irak4 Deficiency, also known as interleukin-1 receptor-associated kinase 4 deficiency, is related to pneumonia and leukocyte adhesion deficiency, type iii, and has symptoms including neutropenia, immunodeficiency and recurrent streptococcus pneumoniae infections. An important gene associated with Irak4 Deficiency is IRAK4 (Interleukin 1 Receptor Associated Kinase 4), and among its related pathways/superpathways are Innate Immune System and HIV Life Cycle. Related phenotypes are hematopoietic system and adipose tissue

Genetics Home Reference : 24 IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.) The most common infections in IRAK-4 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 with age.

OMIM : 53 IRAK4 deficiency is an autosomal recessive primary immunodeficiency that impairs Toll (see TLR4; 603030)/IL1R (see IL1R1; 147810) immunity, except for the TLR3 (603029)- and TLR4-interferon-alpha (IFNA; 147660)/beta (IFNB; 147640) pathways (Ku et al., 2007). (607676)

UniProtKB/Swiss-Prot : 71 IRAK4 deficiency: Causes extracellular pyogenic bacterial and fungal infections in otherwise healthy children.

Related Diseases for Irak4 Deficiency

Diseases related to Irak4 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 40, show less)
# Related Disease Score Top Affiliating Genes
1 pneumonia 30.0 TLR2 TLR4 TLR5
2 leukocyte adhesion deficiency, type iii 11.0
3 prosthetic joint infection 10.3 TLR2 TLR4
4 invasive pneumococcal disease, recurrent isolated, 1 10.3 IRAK4 TIRAP
5 trench fever 10.3 TLR2 TLR4
6 ocular toxoplasmosis 10.3 TLR1 TLR5
7 acute cervicitis 10.3 TLR2 TLR4
8 plasma protein metabolism disease 10.3 BTK MYD88
9 mycobacterium abscessus 10.3 TLR1 TLR2
10 alveolar echinococcosis 10.2 TLR2 TLR4
11 mesenteric lymphadenitis 10.2 MYD88 TLR2
12 myositis fibrosa 10.2 MYD88 TLR2 TLR4
13 suppurative otitis media 10.2 TLR2 TLR4 TLR5
14 ileitis 10.2 TLR2 TLR4 TLR5
15 neisseria meningitidis infection 10.2 TLR2 TLR4
16 mycobacterium chelonae 10.1 CD14 TLR2
17 septic arthritis 10.1 TLR2 TLR4
18 mycobacterium kansasii 10.1 CD14 TLR2
19 bacteriuria 10.1 TIRAP TLR1 TLR4
20 scrub typhus 10.0 TLR2 TLR4
21 legionellosis 10.0 MYD88 TLR2 TLR4 TLR5
22 pleuropneumonia 10.0 IRAK4 MYD88
23 bronchiolitis 10.0 TLR1 TLR10 TLR4
24 mycobacterium tuberculosis 1 9.9 MYD88 TLR1 TLR2 TLR4
25 pericarditis 9.9
26 pleural empyema 9.9
27 ariboflavinosis 9.9 TLR4 TLR6
28 neutrophil migration 9.9
29 hyper ige syndrome 9.9
30 legionnaires' disease 9.8 TLR4 TLR5 TLR6
31 q fever 9.8 TLR1 TLR10 TLR2 TLR4
32 neurosyphilis 9.8 TLR1 TLR2 TLR6
33 lyme disease 9.7 TLR1 TLR2 TLR6
34 penicilliosis 9.6 TLR1 TLR2 TLR4 TLR6
35 invasive aspergillosis 9.5 TLR1 TLR2 TLR4 TLR6
36 filariasis 9.5 TLR1 TLR2 TLR4 TLR6
37 malaria 9.5 CD36 MYD88 TIRAP TLR2 TLR4
38 pelvic inflammatory disease 9.3 TIRAP TLR1 TLR2 TLR4 TLR6
39 melioidosis 9.2 LY96 TLR1 TLR10 TLR2 TLR4 TLR5
40 myd88 deficiency 7.2 BTK CD14 CD36 IRAK4 LY96 MYD88

Graphical network of the top 20 diseases related to Irak4 Deficiency:

Diseases related to Irak4 Deficiency

Symptoms & Phenotypes for Irak4 Deficiency

Clinical features from OMIM:


Human phenotypes related to Irak4 Deficiency:

55 31 (showing 5, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neutropenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001875
2 immunodeficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0002721
3 recurrent streptococcus pneumoniae infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0005366
4 recurrent staphylococcal infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0007499
5 recurrent bacterial infections 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Irak4 Deficiency:

43 (showing 5, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.93 LY96 MYD88 TIRAP TLR1 TLR2 TLR4
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 Irak4 Deficiency

Search Clinical Trials , NIH Clinical Center for Irak4 Deficiency

Genetic Tests for Irak4 Deficiency

Genetic tests related to Irak4 Deficiency:

# Genetic test Affiliating Genes
1 Irak4 Deficiency 28 IRAK4

Anatomical Context for Irak4 Deficiency

Publications for Irak4 Deficiency

Articles related to Irak4 Deficiency:

(showing 3, show less)
# Title Authors Year
IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature. ( 28503543 )
IRAK4 deficiency promotes cardiac remodeling induced by pressure overload. ( 26884959 )
Recurrent systemic pneumococcal disease and IRAK4 deficiency. ( 17984826 )

Variations for Irak4 Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Irak4 Deficiency:

71 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 IRAK4 p.Arg12Cys VAR_072888 rs377584435
2 IRAK4 p.Gly298Asp VAR_072892 rs568782766

ClinVar genetic disease variations for Irak4 Deficiency:

6 (showing 8, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 IRAK4 NM_016123.3(IRAK4): c.34C> T (p.Arg12Cys) single nucleotide variant Pathogenic/Likely pathogenic rs377584435 GRCh37 Chromosome 12, 44161948: 44161948
2 IRAK4 IRAK4, IVS7DS, G-T, +5 single nucleotide variant Pathogenic
3 IRAK4 IRAK4, 1-BP DEL, 821T deletion Pathogenic
4 IRAK4 NM_016123.3(IRAK4): c.877C> T (p.Gln293Ter) single nucleotide variant Pathogenic rs121908002 GRCh37 Chromosome 12, 44172041: 44172041
5 IRAK4 IRAK4, 2-BP DEL, 620AC deletion Pathogenic
6 IRAK4 NC_000012.11: g.(?_44177445)_(44180538_?)del deletion Likely pathogenic GRCh37 Chromosome 12, 44177445: 44180538
7 IRAK4 NM_016123.3(IRAK4): c.224delG (p.Gly75Alafs) deletion Pathogenic GRCh37 Chromosome 12, 44165085: 44165085
8 IRAK4 NM_016123.3(IRAK4): c.717-1G> T single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 44171432: 44171432

Expression for Irak4 Deficiency

Search GEO for disease gene expression data for Irak4 Deficiency.

Pathways for Irak4 Deficiency

Pathways related to Irak4 Deficiency according to GeneCards Suite gene sharing:

(showing 45, show less)
# Super pathways Score Top Affiliating Genes
Show member pathways
14 BTK CD14 CD36 IRAK4 LY96 MYD88
Show member pathways
13.66 BTK CD14 CD36 IRAK4 LY96 MYD88
Show member pathways
13.51 BTK CD14 CD36 LY96 MYD88 TIRAP
Show member pathways
13.5 BTK CD14 CD36 IRAK4 LY96 MYD88
Show member pathways
Show member pathways
13.25 BTK CD14 IRAK4 MYD88 TLR1 TLR10
Show member pathways
12.96 BTK CD14 CD36 IRAK4 LY96 MYD88
Show member pathways
12.77 IRAK4 MYD88 TLR1 TLR10 TLR2 TLR4
Show member pathways
12.69 IRAK4 MYD88 TLR2 TLR4
10 12.67 BTK CD14 IRAK4 MYD88 TLR1 TLR2
Show member pathways
Show member pathways
12.53 CD14 IRAK4 LY96 MYD88 TIRAP TLR4
Show member pathways
Show member pathways
12.48 CD14 LY96 TLR4 TLR5
Show member pathways
12.46 BTK CD14 CD36 IRAK4 LY96 MYD88
Show member pathways
12.39 CD14 IRAK4 LY96 MYD88 TIRAP TLR4
Show member pathways
12.33 IRAK4 LY96 MYD88 TLR2 TLR4
18 12.31 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
Show member pathways
12.3 BTK CD14 CD36 LY96 MYD88 TIRAP
Show member pathways
12.29 BTK CD14 LY96 TLR4
21 12.29 CD14 IRAK4 MYD88 TIRAP TLR1 TLR2
22 12.23 CD14 CD36 TLR2 TLR4 TLR6
23 12.18 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
Show member pathways
12.15 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
Show member pathways
12.05 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
26 11.98 BTK CD14 IRAK4 LY96 MYD88 TIRAP
Show member pathways
11.97 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
Show member pathways
11.94 CD14 LY96 MYD88 TLR4
29 11.93 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
30 11.9 CD14 MYD88 TLR4 TLR5
31 11.87 CD14 IRAK4 LY96 MYD88 TIRAP TLR4
Show member pathways
11.87 CD14 IRAK4 LY96 MYD88 TIRAP TLR1
33 11.84 CD14 TLR2 TLR4
34 11.82 BTK CD14 IRAK4 LY96 MYD88 TLR4
Show member pathways
11.81 CD14 IRAK4 LY96 MYD88 TIRAP TLR1
36 11.78 CD36 TLR2 TLR4 TLR5
37 11.74 CD14 MYD88 TLR2 TLR4 TLR5
38 11.68 IRAK4 MYD88 TIRAP
39 11.68 CD14 LY96 MYD88 TLR4
40 11.63 CD36 MYD88 TLR2 TLR4
41 11.44 CD14 CD36 LY96 TLR4
42 11.25 MYD88 TLR1 TLR2
43 11.23 CD14 LY96 TLR4
44 11.02 MYD88 TLR2
45 10.91 CD14 LY96 TLR4

GO Terms for Irak4 Deficiency

Cellular components related to Irak4 Deficiency according to GeneCards Suite gene sharing:

(showing 9, show less)
# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.93 CD36 TLR1 TLR10 TLR2 TLR4 TLR6
2 endosome membrane GO:0010008 9.65 CD14 IRAK4 LY96 MYD88 TLR4
3 receptor complex GO:0043235 9.61 CD36 TLR4 TLR6
4 phagocytic vesicle membrane GO:0030670 9.58 TLR1 TLR2 TLR6
5 intrinsic component of plasma membrane GO:0031226 9.54 LY96 TLR2 TLR4
6 plasma membrane GO:0005886 9.44 BTK CD14 CD36 IRAK4 LY96 MYD88
7 membrane raft GO:0045121 9.43 BTK CD14 CD36 TLR1 TLR2 TLR6
8 lipopolysaccharide receptor complex GO:0046696 9.33 CD14 LY96 TLR4
9 Toll-like receptor 1-Toll-like receptor 2 protein complex GO:0035354 9.32 TLR1 TLR2

Biological processes related to Irak4 Deficiency according to GeneCards Suite gene sharing:

(showing 76, show less)
# 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 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.93 CD36 TIRAP TLR4
6 positive regulation of nitric oxide biosynthetic process GO:0045429 9.93 CD36 TLR4 TLR5 TLR6
7 lipopolysaccharide-mediated signaling pathway GO:0031663 9.92 CD14 LY96 MYD88 TLR2 TLR4
8 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.91 CD14 LY96 TLR4 TLR6
9 positive regulation of tumor necrosis factor production GO:0032760 9.91 CD14 CD36 LY96 MYD88 TIRAP TLR2
10 cellular response to mechanical stimulus GO:0071260 9.9 MYD88 TLR4 TLR5
11 positive regulation of JNK cascade GO:0046330 9.9 MYD88 TIRAP TLR4
12 positive regulation of interleukin-8 production GO:0032757 9.9 TIRAP TLR2 TLR4 TLR5
13 immune system process GO:0002376 9.9 BTK CD14 IRAK4 LY96 MYD88 TLR1
14 positive regulation of inflammatory response GO:0050729 9.89 TLR10 TLR2 TLR4
15 positive regulation of interleukin-12 production GO:0032735 9.89 CD36 TIRAP TLR2 TLR4
16 cellular response to amyloid-beta GO:1904646 9.87 CD36 TLR4 TLR6
17 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.86 CD14 LY96 TLR4
18 necroptotic process GO:0070266 9.85 CD14 LY96 TLR4
19 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.85 MYD88 TLR4 TLR6
20 cellular response to lipoteichoic acid GO:0071223 9.85 CD14 CD36 TIRAP TLR2 TLR4
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 toll-like receptor 4 signaling pathway GO:0034142 9.84 CD14 LY96 TIRAP TLR4
24 positive regulation of interleukin-8 secretion GO:2000484 9.83 CD14 TLR1 TLR2
25 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.83 CD36 TLR4 TLR6
26 interleukin-1 beta secretion GO:0050702 9.81 CD36 TLR4 TLR6
27 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.81 CD36 MYD88 TLR4 TLR6
28 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.8 TIRAP TLR1 TLR6
29 negative regulation of MyD88-independent toll-like receptor signaling pathway GO:0034128 9.8 CD14 LY96 TLR4
30 toll-like receptor TLR6:TLR2 signaling pathway GO:0038124 9.8 CD14 CD36 TLR2 TLR6
31 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.79 CD36 TLR4 TLR6
32 cellular response to diacyl bacterial lipopeptide GO:0071726 9.78 CD14 CD36 TLR2 TLR6
33 cellular response to bacterial lipopeptide GO:0071221 9.76 CD36 TIRAP TLR2
34 response to bacterium GO:0009617 9.75 CD14 TLR4
35 positive regulation of interferon-beta production GO:0032728 9.75 TLR2 TLR4
36 positive regulation of interleukin-10 production GO:0032733 9.75 TLR2 TLR4
37 positive regulation of NF-kappaB import into nucleus GO:0042346 9.75 TLR2 TLR4
38 toll-like receptor TLR1:TLR2 signaling pathway GO:0038123 9.75 CD14 TLR1 TLR2
39 positive regulation of chemokine production GO:0032722 9.74 TLR2 TLR4
40 3-UTR-mediated mRNA stabilization GO:0070935 9.74 MYD88 TIRAP
41 activation of NF-kappaB-inducing kinase activity GO:0007250 9.74 TIRAP TLR6
42 response to fatty acid GO:0070542 9.74 CD36 TLR2
43 toll-like receptor 9 signaling pathway GO:0034162 9.74 IRAK4 MYD88
44 positive regulation of macrophage activation GO:0043032 9.74 TLR4 TLR6
45 microglial cell activation GO:0001774 9.74 TLR2 TLR6
46 cellular response to triacyl bacterial lipopeptide GO:0071727 9.74 CD14 TLR1 TLR2
47 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.73 TLR2 TLR4
48 response to molecule of bacterial origin GO:0002237 9.73 CD14 TLR2
49 I-kappaB phosphorylation GO:0007252 9.73 TLR2 TLR4
50 T-helper 1 type immune response GO:0042088 9.73 TLR4 TLR6
51 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.73 TLR1 TLR4
52 macrophage activation GO:0042116 9.73 TLR1 TLR4
53 positive regulation of lymphocyte proliferation GO:0050671 9.72 MYD88 TLR4
54 positive regulation of macrophage cytokine production GO:0060907 9.72 CD36 TLR4
55 positive regulation of toll-like receptor 2 signaling pathway GO:0034137 9.71 TIRAP TLR1
56 detection of lipopolysaccharide GO:0032497 9.71 LY96 TLR4
57 positive regulation of toll-like receptor signaling pathway GO:0034123 9.71 TLR2 TLR5
58 nitric oxide metabolic process GO:0046209 9.7 TLR2 TLR6
59 positive regulation of oxidative stress-induced neuron death GO:1903223 9.7 TLR4 TLR6
60 detection of triacyl bacterial lipopeptide GO:0042495 9.7 TLR1 TLR2
61 detection of diacyl bacterial lipopeptide GO:0042496 9.7 TLR2 TLR6
62 response to bacterial lipoprotein GO:0032493 9.69 TLR2 TLR6
63 toll-like receptor signaling pathway GO:0002224 9.65 CD14 CD36 IRAK4 LY96 MYD88 TLR1
64 regulation of cytokine secretion GO:0050707 9.1 TLR1 TLR10 TLR2 TLR4 TLR5 TLR6
65 signal transduction GO:0007165 10.33 IRAK4 MYD88 TIRAP TLR1 TLR10 TLR2
66 immune response GO:0006955 10.15 CD36 TLR1 TLR10 TLR2 TLR4 TLR6
67 MyD88-dependent toll-like receptor signaling pathway GO:0002755 10.13 BTK CD14 CD36 IRAK4 LY96 MYD88
68 positive regulation of gene expression GO:0010628 10.1 CD36 MYD88 TLR2 TLR4 TLR6
69 inflammatory response GO:0006954 10.1 CD14 LY96 MYD88 TIRAP TLR1 TLR10
70 cell surface receptor signaling pathway GO:0007166 10.08 CD14 CD36 LY96 MYD88 TIRAP
71 response to lipopolysaccharide GO:0032496 10.03 CD14 LY96 MYD88 TIRAP TLR2 TLR4
72 positive regulation of NF-kappaB transcription factor activity GO:0051092 10.03 BTK CD36 IRAK4 MYD88 TIRAP TLR2
73 innate immune response GO:0045087 10.03 BTK CD14 IRAK4 LY96 MYD88 TIRAP
74 cellular response to lipopolysaccharide GO:0071222 10.02 CD14 CD36 LY96 TLR4 TLR5
75 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 10.02 CD36 IRAK4 MYD88 TIRAP TLR4 TLR6
76 defense response to bacterium GO:0042742 10.01 TLR1 TLR4 TLR5 TLR6

Molecular functions related to Irak4 Deficiency according to GeneCards Suite gene sharing:

(showing 10, show less)
# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.83 TIRAP TLR1 TLR2 TLR4 TLR6
2 receptor binding GO:0005102 9.78 BTK MYD88 TLR4 TLR6
3 transmembrane signaling receptor activity GO:0004888 9.77 TLR1 TLR10 TLR4 TLR5 TLR6
4 receptor activity GO:0004872 9.76 TLR1 TLR2 TLR4 TLR6
5 lipopolysaccharide binding GO:0001530 9.58 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 Irak4 Deficiency

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
51 Novoseek
54 OMIM via Orphanet
58 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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