HIES
MCID: HYP458
MIFTS: 54

Hyper Ige Syndrome (HIES) malady

Skin, Blood, Immune categories

Summaries for Hyper Ige Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Hyper ige syndromes (hies) are rare primary immune deficiencies characterized by elevated serum ige, skin inflammation (dermatitis) and recurrent skin and lung infections. there are two forms of hies, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant hies (ad-hies) and autosomal recessive hies (ar-hies). individuals with ad-hies may also have varying degrees of connective tissue, skeletal, and dental abnormalities as well as a distinctive facial appearance. this form is inherited in an autosomal dominant manner and is caused by mutations in the stat3 gene in about 70% of cases. unique characteristics of ar-hies include extreme hypereosinophilia; susceptibility to viral infections such as herpes simplex and molluscum contagiosum; central nervous system involvement; t-cell defects; and a high death rate. ar-hies is inherited in an autosomal recessive manner and is often caused by mutations in the dock8 gene. last updated: 10/10/2012

MalaCards: Hyper Ige Syndrome, also known as job's syndrome, is related to atopic dermatitis and molluscum contagiosum, and has symptoms including frontal bossing/prominent forehead, autosomal recessive inheritance and scoliosis. An important gene associated with Hyper Ige Syndrome is STAT3 (signal transducer and activator of transcription 3 (acute-phase response factor)), and among its related pathways are TGF-Beta Pathway and Rheumatoid arthritis. The compounds cycloheximide and pdtc have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and t cells, and related mouse phenotypes are renal/urinary system and skeleton.

Genetics Home Reference:21 Job syndrome is a condition that affects several body systems, particularly the immune system. Recurrent infections are common in people with this condition. Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation. Recurrent skin infections and an inflammatory skin disorder called eczema are also very common in Job syndrome. These skin problems cause rashes, blisters, collections of pus (abscesses), open sores, and scaling.

Description from OMIM:47 147060

Aliases & Classifications for Hyper Ige Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 61UMLS, 49Orphanet, 47OMIM, 45Novoseek, 10DISEASES, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin, Blood, Immune


Characteristics (Orphanet epidemiological data):

49
job syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

hyper ige syndrome 43
job's syndrome 43 21 61
job syndrome 43 21 49
hyperimmunoglobulin e-recurrent infection syndrome 21 49
hyper-ige recurrent infection syndrome 43 47
hyper-ige syndrome 21 45
buckley syndrome 21 49
hies 43 21
hyper-immunoglobulin e syndrome, autosomal dominant 61
autosomal dominant hyperimmunoglobulin e syndrome 49
autosomal dominant hyper-ige syndrome 49
hyperimmunoglobulin e syndrome type 1 49
hyperimmunoglobulin e syndrome 43
autosomal dominant hies 49
job-buckley syndrome 21
jobs syndrome 10
hie syndrome 21
ad-hies 49


External Ids:

OMIM47 147060
ICD10 via Orphanet26 D82.4

Related Diseases for Hyper Ige Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Hyper Ige Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 424)
idRelated DiseaseScoreTop Affiliating Genes
1atopic dermatitis30.8RNASE3, IL4
2molluscum contagiosum30.5DOCK8
3systemic lupus erythematosus30.4TLR9, IL4R, IL4, IL17A, TYK2, IL6
4adenoma30.2TLR4
5aspergillosis30.2IFNG, TLR4
6tetanus30.2IL4, IFNG
7asthma30.2IL4, RNASE3, IGHE
8burkitt's lymphoma30.2CXCR1, CXCR2, IL4, IL4R, TLR9
9sepsis30.2CXCR1, TLR9, CXCR2, IL17A, IL6, SELL
10tuberculosis30.0CXCR2, IL17A, IL4, IL4R, CXCR1, IFNG
11acute myocardial infarction29.9MMP8
12thrombocytopenia29.9TLR4, IL6
13arthritis29.9IL17A, IL6, SELL
14alzheimer's disease29.9TLR3, IL6, CXCR2
15allergic asthma29.9TLR4, TLR9, IFNG, IGHE, RNASE3, IL4R
16cholera29.7IL17A
17colorectal cancer29.7IL4R
18graft versus host disease29.7IFNG, SELL, IL4
19pulmonary tuberculosis29.7CXCR1, IFNG, IL4
20graves' disease29.7SELL, IL4, IFNG, IL4R
21cystic fibrosis29.7TLR4, CXCR1, IL17A, RNASE3
22squamous cell carcinoma29.6SELL, CXCR2, STAT3, TWIST1, CXCR1, IL4R
23ipex syndrome29.6SELL, IL4R, IFNG, TLR9, IGHE, MMP8
24n syndrome10.8
25autosomal dominant hyper ige syndrome10.7
26autosomal recessive hyper ige syndrome10.6
27job's syndrome10.6
28t cell deficiency10.4
29necrotizing fasciitis10.3
30coronary aneurysm10.3
31coronary artery aneurysm10.3
32dubowitz syndrome10.3
33chronic granulomatous disease10.3
34autosomal dominant disease10.3
35hyper-ige recurrent infection syndrome, autosomal recessive10.3
36lymphoma, diffuse large cell10.3
37tyrosine kinase 2 deficiency10.3
38hematopoietic stem cell transplantation10.3
39thalassemia10.3
40dysfibrinogenemia10.2
41alpha thalassemia10.2
42pleuropneumonia10.2
43crohn's disease10.2
44bullous pemphigoid10.2
45pseudotumor cerebri10.2
46nocardiosis10.2
47neonatal diabetes mellitus10.2
48osteochondritis dissecans10.2
49autosomal recessive disease10.2
50short syndrome10.2

Graphical network of the top 20 diseases related to Hyper Ige Syndrome:



Diseases related to hyper ige syndrome

Clinical Features for Hyper Ige Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

147060

Clinical synopsis from OMIM:

147060

Symptoms:

49 (show all 38)
  • frontal bossing/prominent forehead
  • autosomal recessive inheritance
  • scoliosis
  • autosomal dominant inheritance
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • chronic/relapsing otitis
  • anomalies of skin, subcutaneous tissue and mucosae
  • repeat respiratory infections
  • broad nose/nasal bridge
  • anomalies of teeth and dentition
  • fever/chilling
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • chronic skin infection/ulcerations/ulcers/cancrum
  • cutaneous rash
  • follicular/erythematous/edematous papules/milium
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • pruritus/itching
  • hyperextensible joints/articular hyperlaxity
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • mutiple fractures/bone fragility
  • gingivitis
  • cough
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • face/facial anomalies
  • arterial aneurism (excluding aorta)
  • anomalies of the immunitary system
  • craniostenosis/craniosynostosis/sutural synostosis
  • atelectasia/pulmonary collapse
  • deepset eyes/enophthalmos
  • lymphoma
  • eczema
  • hair and scalp anomalies
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • dysplastic/thick/grooved fingernails
  • eosinophils anomalies/hypereosinophilia
  • cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue
  • onyxis/paronyxis/ungual inflammation

Drugs & Therapeutics for Hyper Ige Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hyper Ige Syndrome

Drug clinical trials:

Search ClinicalTrials for Hyper Ige Syndrome

Search NIH Clinical Center for Hyper Ige Syndrome

Search CenterWatch for Hyper Ige Syndrome

Genetic Tests for Hyper Ige Syndrome

Anatomical Context for Hyper Ige Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hyper Ige Syndrome:

33
Skin, Lung, T cells

Animal Models for Hyper Ige Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Hyper Ige Syndrome

Genetic Variations for Hyper Ige Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Hyper Ige Syndrome:

63 (show all 14)
id Symbol AA change Variation SNP ID
1STAT3p.Arg382LeuVAR_037365
2STAT3p.Arg382GlnVAR_037366
3STAT3p.Arg382TrpVAR_037367
4STAT3p.Phe384LeuVAR_037368
5STAT3p.Phe384SerVAR_037369
6STAT3p.Thr389IleVAR_037370
7STAT3p.Arg423GlnVAR_037371
8STAT3p.His437TyrVAR_037372
9STAT3p.Ser611AsnVAR_037375
10STAT3p.Phe621ValVAR_037376
11STAT3p.Thr622IleVAR_037377
12STAT3p.Val637LeuVAR_037378
13STAT3p.Val637MetVAR_037379
14STAT3p.Tyr657CysVAR_037381

Expression for genes affiliated with Hyper Ige Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hyper Ige Syndrome

Search GEO for disease gene expression data for Hyper Ige Syndrome.

Pathways for genes affiliated with Hyper Ige Syndrome

Sources:
52QIAGEN, 30KEGG, 53R&D Systems, 54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 4Cell Signaling Technology, 60Tocris Bioscience
See all sources

Pathways related to Hyper Ige Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 52)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2IL4R
210.2TLR4
3
Hide members
10.1TYK2, IL4R
410.1IL4, IL4R
510.0TLR3, TLR9
610.0TYK2, IFNG, STAT3
710.0STAT3, TYK2, IL6
8
Immune response Oncostatin M signaling via JAK-Stat in human cells
Hide members
10.0IL6, STAT3, TYK2
910.0TLR9, TLR4
1010.0TLR9, TLR4
1110.0IL6, TYK2, IFNG
129.9IFNG, IL6, IL4
139.9IL6, IL4, IFNG
14
Hide members
9.9STAT3, TYK2, TLR4
159.9TYK2, IL4R, IL4
16
Mucin expression in CF via IL-6, IL-17 signaling pathways
Hide members
9.9IL17A, IL17C, STAT3
179.9IL4R, IL4, IFNG
189.9IL6, IL4R, IL4
199.9TLR9, IFNG, IL6
209.9IL4, IL6, TLR4
219.9IFNG, IL6, TLR4
22
Immune response Bacterial infections in normal airways
9.9IL6, IFNG, TLR4
23
Hide members
9.8STAT3, TYK2, IL4, IFNG
24
Development Thrombopoetin signaling via JAK-STAT pathway
Hide members
9.8IL4, STAT3, TYK2, IFNG
25
Hide members
9.8STAT3, IL6, TYK2, IFNG
269.8IL4, IGHE, IL4R
27
Hide members
9.8IL17A, IL4, IFNG, IL6
289.8TLR3, TLR4, TLR9
299.7IL6, TLR4, STAT3, TYK2
30
Cytokine production by Th17 cells in CF (Mouse model)
9.7TLR4, STAT3, IL17A, IL6
319.7STAT3, IL6, TLR4, IFNG
32
Development PDGF signaling via STATs and NF-kB
Hide members
9.7STAT3, IFNG, TYK2, IL17A, IL6
33
Hide members
9.6TLR4, IFNG, TLR3, IL6
34
Hide members
9.6TLR9, STAT3, TLR4, TLR3
359.6TLR4, IL6, TLR9, IL4
36
Hide members
9.6IL6, TLR9, TLR3, IL4R
37
Hide members
9.6IL6, TLR3, TLR9, TLR4
38
Hide members
9.6IL6, TLR4, TLR9, TLR3
39
Hide members
9.6STAT3, IL6, TYK2, IL4R, IL4
40
Hide members
9.5IFNG, RNASE3, IL6, IL4, IL4R
419.4IL4R, STAT3, IL4, TYK2, IFNG, IL6
429.3TLR4, IFNG, IL6, STAT3, TLR3, TLR9
43
Hide members
9.3IL6, STAT3, TLR3, TLR9, TLR4, IFNG
44
Hide members
9.1IL17A, IL4R, CXCR1, CXCR2, TYK2, TLR4
45
Hide members
9.1STAT3, TLR9, IL4, TLR4, IFNG, TLR3
46
Hide members
9.0IL4R, STAT3, TLR4, TLR9, IL4, IL6
47
Hide members
9.0TLR4, IFNG, STAT3, IL4R, IL4, IL17A
48
Hide members
9.0TLR9, IFNG, TLR4, IL6, STAT3, TYK2
49
Hide members
9.0IL4, TYK2, STAT3, IFNG, TLR3, TLR9
50
Hide members
8.9TYK2, IGHE, TLR9, IL6, STAT3, IFNG

Compounds for genes affiliated with Hyper Ige Syndrome

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 50PharmGKB, 24HMDB, 2BitterDB
See all sources

Compounds related to Hyper Ige Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 129)
idCompoundScoreTop Affiliating Genes
1cycloheximide4510.7SELL
2pdtc4510.4IL6, TLR4
3prednisolone45 29 1112.2IGHE, RNASE3, SELL
4resiquimod45 6011.1TLR3, TLR9, TLR4
5endotoxin4510.1RNASE3, SELL, CXCR2, TLR3
6polymyxin b4510.1IL4, IL6, TLR4, IFNG
7budesonide45 50 1112.0IL4, IFNG, IGHE, RNASE3
8fluticasone propionate45 50 60 1113.0IFNG, IGHE, RNASE3, IL4
9imiquimod45 29 60 1113.0TLR4, TLR3, IFNG, IL6
10fmlp4510.0CXCR2, RNASE3, SELL
11methacholine45 1111.0IGHE, RNASE3, IL4, IL17A
122,5-oligoadenylate459.9IFNG, TLR4, TLR3, IL6
13groalpha459.9CXCR1, IL17A, IL6, CXCR2
14nedocromil sodium459.9IL4, IGHE, RNASE3
15pentoxifylline45 1110.9IL4, IFNG, SELL, IL6
16ivig459.9IL4, IGHE, IFNG, IL6
17il 10459.9TLR4, IL6, IL4, IFNG, IL4R
18peptidoglycan45 2910.8TLR9, TLR3, IL6, TLR4
1915-deoxy-delta-12,14-prostaglandin j2459.8IFNG, IL6, STAT3, IL4
20simvastatin45 50 60 29 11 2414.8IFNG, TLR4, IL6, SELL, IL4
21tarc459.8CXCR1, IGHE, IFNG, IL4, IL4R
22ccl345 2910.8IL6, TLR9, IFNG, CXCR1, TLR4
23ionomycin459.8IL4R, IL4, SELL, IL17A, IFNG
24leukotriene b445 60 2411.8IL6, CXCR2, CXCR1, RNASE3, SELL
25infliximab45 50 1111.7IGHE, IL4, IFNG, TLR4, IL17A, IL6
26lipoteichoic acid459.7TLR9, IL6, TLR4, TLR3, CXCR2
27poly(i-c)459.7TLR3, IL4, TLR4, TLR9, IFNG, IL6
28ifn-alpha459.6TLR4, TLR3, IL6, IL17A, IFNG, TYK2
29herbimycin a45 6010.6IFNG, CXCR1, IL4, IL6, SELL, CXCR2
30sb 20358045 6010.6SELL, IL6, IL17A, IL4, STAT3, IFNG
31n acetylcysteine459.6IL6, STAT3, IGHE, TLR4, RNASE3, IL4
32allergens459.6IL4, IL4R, RNASE3, IGHE, IFNG, TLR4
33ly294002459.6IL17A, IL4, TYK2, STAT3, IL6, TLR3
34praziquantel45 1110.6IGHE, RNASE3, IL4
35polyinosinic-polycytidylic acid459.6TLR4, IL6, IL4, STAT3, IFNG, TLR3
36wortmannin459.4STAT3, CXCR1, CXCR2, TYK2, TLR3, TLR4
37histamine45 29 2411.3IL4R, TLR4, IGHE, SELL, IL6, IFNG
38lactate459.2TLR4, IGHE, IL6, MMP8, SELL, RNASE3
39genistein45 29 60 2 11 2414.2IL6, TLR4, CXCR1, STAT3, CXCR2, MMP8
40phosphatidylinositol459.1TLR4, TLR3, STAT3, TYK2, CXCR2, CXCR1
41actinomycin d459.1IL4, TLR4, IFNG, STAT3, IGHE, CXCR1
42alanine459.1MMP8, CXCR2, TLR4, STAT3, SELL, IGHE
43dexamethasone45 50 29 1112.1SELL, TLR4, TLR3, STAT3, IGHE, CXCR1
44rantes459.0IL4R, TLR4, STAT3, RNASE3, CXCR1, IL4
45oligonucleotide459.0RNASE3, MMP8, IL17A, CXCR1, STAT3, TLR3
46cyclosporin a45 29 6010.9MMP8, IL6, IL17A, STAT3, RNASE3, IL4
47nitric oxide45 11 2410.9IFNG, MMP8, IL6, IL17A, TLR3, RNASE3
48vegf458.5SELL, IFNG, TLR4, MMP8, IL6, IL17A
49retinoic acid45 249.4IL6, TLR4, TLR3, IFNG, STAT3, IGHE
50tyrosine458.1CXCR1, CXCR2, RNASE3, TYK2, STAT3, TLR3

GO Terms for genes affiliated with Hyper Ige Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Hyper Ige Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endolysosome membraneGO:03602010.0TLR3, TLR9
2external side of plasma membraneGO:0098979.3SELL, IL6, IL17A, IL4, IFNG, TLR4
3extracellular spaceGO:0056158.8IFNG, IL17C, IL4R, IL4, IL17A, IL6

Biological processes related to Hyper Ige Syndrome according to GeneCards/GeneDecks:

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1neutrophil apoptotic processGO:00178110.5IFNG, IL6
2positive regulation of interleukin-23 productionGO:03274710.4IFNG, IL17A
3positive regulation of isotype switching to IgG isotypesGO:04830410.4IFNG, IL4
4fibroblast activationGO:07253710.4RGCC, IL17A
5positive regulation of interferon-alpha biosynthetic processGO:04535610.4TLR9, TLR3
6positive regulation of toll-like receptor signaling pathwayGO:03412310.3TLR9, TLR3
7positive regulation of chemokine biosynthetic processGO:04508010.3TLR3, IFNG, IL4
8positive regulation of T-helper 2 cell differentiationGO:04563010.3IL4R, IL6
9interleukin-8-mediated signaling pathwayGO:03811210.3CXCR2, CXCR1
10positive regulation of MHC class II biosynthetic processGO:04534810.3IL4, TLR4, IFNG
11positive regulation of interleukin-12 biosynthetic processGO:04508410.3TLR4, IFNG
12positive regulation of T cell proliferationGO:04210210.3IFNG, IL6, IL4
13interleukin-6-mediated signaling pathwayGO:07010210.3IL6, STAT3
14positive regulation of cytokine production involved in inflammatory responseGO:190001710.3IL17A, IL17C
15negative regulation of osteoclast differentiationGO:04567110.2TLR4, TLR3, IL4
16positive regulation of interleukin-10 productionGO:03273310.2TLR9, IL4, TLR4
17positive regulation of nitric oxide biosynthetic processGO:04542910.2TLR4, IFNG, IL6
18regulation of cytokine secretionGO:05070710.2TLR9, TLR4
19negative regulation of interleukin-17 productionGO:03270010.2TLR4, IFNG
20positive regulation of interferon-beta biosynthetic processGO:04535910.2TLR4, TLR9, TLR3
21I-kappaB phosphorylationGO:00725210.2TLR4, TLR3, TLR9
22positive regulation of NF-kappaB import into nucleusGO:04234610.2TLR3, TLR4, TLR9
23positive regulation of interleukin-8 productionGO:03275710.2TLR4, TLR3, TLR9
24positive regulation of interferon-beta productionGO:03272810.2TLR4, TLR9, TLR3
25defense response to protozoanGO:04283210.1IL6, IL4, IFNG, IL4R
26positive regulation of inflammatory responseGO:05072910.1TLR3, TLR9, TLR4
27positive regulation of JNK cascadeGO:04633010.1TLR4, TLR9, TLR3
28positive regulation of chemokine productionGO:03272210.0IL6, TLR3, TLR9, TLR4
29positive regulation of interleukin-12 productionGO:03273510.0TLR3, TLR9, IFNG, TLR4
30positive regulation of interleukin-6 productionGO:03275510.0TLR4, TLR9, TLR3, IL6
31cytokine-mediated signaling pathwayGO:01922110.0IFNG, IL6, TYK2, STAT3
32positive regulation of nitric-oxide synthase biosynthetic processGO:05177010.0TLR9, TLR4
33negative regulation of cytokine secretionGO:05071010.0RGCC, IL6
34positive regulation of NF-kappaB transcription factor activityGO:05109210.0TLR9, TLR4, TLR3, IL6
35positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.9IL4, IL6, RGCC
36defense response to bacteriumGO:0427429.8TLR9, TLR4, TLR3, IFNG, RNASE3
37positive regulation of tumor necrosis factor productionGO:0327609.8TLR9, TWIST1, TLR3, IFNG, TLR4
38cell surface receptor signaling pathwayGO:0071669.8IL17C, IFNG, CXCR2, CXCR1
39positive regulation of interferon-gamma biosynthetic processGO:0450789.7TLR3, TLR9
40immune responseGO:0069559.7IL4R, IL17A, IGHE, IL4, TLR4
41response to drugGO:0424939.7IL4, IL6, STAT3, IFNG
42inflammatory responseGO:0069549.3IL6, IL17A, IL17C, CXCR1, CXCR2, TLR3
43positive regulation of transcription from RNA polymerase II promoterGO:0459449.2TLR9, TLR4, IL6, IFNG, STAT3, IL4

Molecular functions related to Hyper Ige Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-8 bindingGO:0199599.9CXCR1, CXCR2
2interleukin-8 receptor activityGO:0049189.6CXCR1, CXCR2
3cytokine activityGO:0051259.4IL6, IL17A, IL4, IL17C, IFNG

Products for genes affiliated with Hyper Ige Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyper Ige Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet