HES
MCID: HYP098
MIFTS: 62

Hypereosinophilic Syndrome (HES) malady

Genetic diseases, Rare diseases, Blood diseases, Cancer diseases categories
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Summaries for Hypereosinophilic Syndrome

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NIH Rare Diseases:42 Hypereosinophilic syndrome is a group of rare blood disorders characterized by increased levels of eosinophils (a type of white blood cell that plays a role in the human immune system) persisting for more than six months. the signs and symptoms are due to involvement of several internal organs and there is usually no evidence of parasites, allergy, or other known causes of an elevated eosinophil count. this condition largely occurs in males, typically at middle age. it usually presents with fever, weight loss, fatigue, and rash. an enlarged liver and spleen and liver is often present. the lungs, kidneys, heart, and nervous system can also be affected. last updated: 7/11/2011

MalaCards based summary: Hypereosinophilic Syndrome, also known as hypereosinophilic syndrome, idiopathic, is related to endomyocardial fibrosis and systemic mastocytosis. An important gene associated with Hypereosinophilic Syndrome is PDGFRA (platelet-derived growth factor receptor, alpha polypeptide), and among its related pathways are Osteoblast Signaling and Cytoskeleton remodeling Role of PDGFs in cell migration. The compounds su 6668 and su 16f have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and lung, and related mouse phenotypes are digestive/alimentary and reproductive system.

Wikipedia:65 The hypereosinophilic syndrome (HES) is a disease characterized by a persistently elevated eosinophil... more...

Aliases & Classifications for Hypereosinophilic Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 44Novoseek, 48Orphanet, 38NCBI Bookshelf, 22GTR, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Hypereosinophilic Syndrome, Aliases & Descriptions:

Name: Hypereosinophilic Syndrome 42 20 44 48
Hypereosinophilic Syndrome, Idiopathic 42 22
Idiopathic Hypereosinophilic Syndrome 44 62
 
Hes 42 38
Chronic Eosinophilic Leukemia 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
hypereosinophilic syndrome:
Prevalence: 1-9/100000; Age of onset: Variable


External Ids:

MESH via Orphanet35 D017681
ICD10 via Orphanet26 D47.5
UMLS via Orphanet63 C1540912

Related Diseases for Hypereosinophilic Syndrome

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Diseases in the Hypereosinophilic Syndrome family:

Primary Hypereosinophilic Syndrome

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

(show top 50)    (show all 255)
idRelated DiseaseScoreTop Affiliating Genes
1endomyocardial fibrosis31.2FIP1L1, PDGFRA
2systemic mastocytosis31.0PDGFRB
3myelofibrosis30.6FIP1L1, PDGFRA, PDGFRB
4churg-strauss syndrome30.6RNASE3, IL5
5urticaria30.5RNASE3
6helminthiasis30.3IL5, RNASE3
7bullous pemphigoid30.1RNASE3, IL5
8bronchitis30.1RNASE3, IL5
9leukemia30.0RNASE3, EPX, FIP1L1, PDGFRA, PDGFRB, KIT
10asthma30.0IL5, EPX, RNASE3
11chronic myeloid leukemia30.0PDGFRA, PDGFRB, KIT
12sarcoma29.9PDGFRA, PDGFRB, KIT
13mastocytosis29.9KIT, PDGFRB, PDGFRA, IL5, FIP1L1
14eosinophilia29.9RNASE3, EPX, FIP1L1, IL5, PDGFRA, PDGFRB
15endocarditis10.5
16cerebritis10.5
17primary hypereosinophilic syndrome10.5
18colitis10.4
19paragonimiasis10.4IL5
20chronic rhinitis10.4RNASE3
21conjunctivitis10.4RNASE3
22collagenous colitis10.4RNASE3
23myocardial infarction10.4
24eosinophilic gastroenteritis10.4
25gastroenteritis10.4
26restrictive cardiomyopathy10.4
27hepatitis10.3
28peripheral t-cell lymphoma10.3
29vasculitis10.3
30hypereosinophilic syndrome, idiopathic, resistant to imatinib10.3
31eosinophilic colitis10.3
32bone marrow cancer10.3PDGFRB, PDGFRA
33cystitis10.3
34myocarditis10.3
35lymphomatoid papulosis10.3
36aneurysm10.3
37secondary hypereosinophilic syndrome10.3
38chordoma10.3PDGFRB, PDGFRA
39gastrointestinal stromal tumor10.2PDGFRA, KIT
40mesenchymal cell neoplasm10.2KIT, PDGFRA
41kimura disease10.2RNASE3, IL5
42acute lymphoblastic leukemia10.2
43acute myocardial infarction10.2
44ulcerative colitis10.2
45disseminated intravascular coagulation10.2
46lymphoblastic leukemia10.2
47wells syndrome10.2
48thromboembolism10.2
49lymphoid hypereosinophilic syndrome10.2
50schistosomiasis10.2IL5, RNASE3

Graphical network of the top 20 diseases related to Hypereosinophilic Syndrome:



Diseases related to hypereosinophilic syndrome

Symptoms for Hypereosinophilic Syndrome

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Drugs & Therapeutics for Hypereosinophilic Syndrome

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Drug clinical trials:

Search ClinicalTrials for Hypereosinophilic Syndrome

Search NIH Clinical Center for Hypereosinophilic Syndrome

Genetic Tests for Hypereosinophilic Syndrome

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Genetic tests related to Hypereosinophilic Syndrome:

id Genetic test Affiliating Genes
1 Hypereosinophilic Syndrome20 PDGFRA
2 Idiopathic Hypereosinophilic Syndrome22

Anatomical Context for Hypereosinophilic Syndrome

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MalaCards organs/tissues related to Hypereosinophilic Syndrome:

32
Liver, Heart, Lung, Spleen, Kidney, T cells, Bone, Bone marrow, Skin, Thymus, Brain, Myeloid, B lymphoblasts, B cells, Endothelial

Animal Models for Hypereosinophilic Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hypereosinophilic Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.5IL5, PDGFRA, PDGFRB, KIT
2MP:00053898.5KIT, PDGFRB, PDGFRA, IL5
3MP:00053808.2IL5, PDGFRA, PDGFRB, KIT
4MP:00053977.7KIT, PDGFRB, PDGFRA, IL5, EPX
5MP:00053877.6EPX, IL5, PDGFRA, PDGFRB, KIT

Publications for Hypereosinophilic Syndrome

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Articles related to Hypereosinophilic Syndrome:

(show top 50)    (show all 563)
idTitleAuthorsYear
1
Hypereosinophilic syndrome with large intracardiac thrombus. (25189313)
2014
2
Pediatric idiopathic hypereosinophilic syndrome with Gianotti-Crosti syndrome: a novel presentation. (24738625)
2014
3
An unusual case of idiopathic hypereosinophilic syndrome presenting with myopericarditis and a polypoid cardiac mass. (24769822)
2014
4
Eosinophilic cystitis presented as a manifestation of hypereosinophilic syndrome: a case report and review of the literature. (23573073)
2013
5
Hypereosinophilic syndrome masquerading as a myocardial infarction causing decompensated heart failure. (24053402)
2013
6
Effect of cyclosporine on lymphocytic variant hypereosinophilic syndrome. (23669338)
2013
7
A case of dermatopathic lymphadenopathy associated with hypereosinophilic syndrome. (22499479)
2012
8
Gadolinium-enhanced cardiovascular magnetic resonance for the detection and characterization of Loeffler endocarditis in patients with hypereosinophilic syndrome. (21963210)
2011
9
Hypereosinophilic syndrome presenting with large left ventricular apical thrombus and pulmonary embolism. (21854430)
2011
10
An 8-year-old boy with hypereosinophilic syndrome. (21646806)
2011
11
Medical therapy alone produces regression of combined aortic and mitral valve involvement in hypereosinophilic syndrome. (20956234)
2010
12
Hypereosinophilic syndromes: pathogenic and therapeutic up-to-date]. (20303627)
2010
13
The proportion of CD3- CD4+ T-cell population remained unaffected after corticosteroids treatment for lymphocytic variant hypereosinophilic syndrome (L-HES). (20883323)
2010
14
Mepolizumab as a corticosteroid-sparing agent in lymphocytic variant hypereosinophilic syndrome. (20810155)
2010
15
Endomyocardial disease related to idiopathic hypereosinophilic syndrome: a cardiac magnetic resonance evaluation. (20396876)
2010
16
Wells Syndrome with Multiorgan Involvement Mimicking Hypereosinophilic Syndrome. (20652113)
2009
17
A novel FIP1L1-PDGFRA mutant destabilizing the inactive conformation of the kinase domain in chronic eosinophilic leukemia/hypereosinophilic syndrome. (19210352)
2009
18
Successful treatment of refractory idiopathic hypereosinophilic syndrome with etoposide. (19142161)
2009
19
Oral mucosa lesions in hypereosinophilic syndrome--an update. (18194138)
2008
20
Hypereosinophilic syndrome with isolated Loeffler's endocarditis: complete resolution with corticosteroids. (18480530)
2008
21
Hypereosinophilic syndrome and mepolizumab. (18584819)
2008
22
Clinical features of hypereosinophilic syndrome: FIP1L1-PDGFRA fusion gene-positive disease is a distinct clinical entity with myeloproliferative features and a poor response to corticosteroid. (17261495)
2007
23
Bullous pemphigoid associated with hypereosinophilic syndrome: simultaneous response to imatinib. (17097375)
2007
24
Eosinophilic ascites as the first sign of idiopathic hypereosinophilic syndrome in childhood. (17881935)
2007
25
Factor V Leiden mutation and deep venous thrombosis in a patient with hypereosinophilic syndrome. (16951787)
2006
26
Current concepts on the pathogenesis of the hypereosinophilic syndrome/chronic eosinophilic leukemia. (23662039)
2006
27
Hypereosinophilic syndrome: lymphoproliferative and myeloproliferative variants. (16612767)
2006
28
Control of hypereosinophilic syndrome-associated recalcitrant coronary artery spasm by combined treatment with prednisone, imatinib mesylate and hydroxyurea. (18651015)
2006
29
Selective priming of peripheral blood eosinophils in patients with idiopathic hypereosinophilic syndrome. (17078855)
2006
30
Intracardiac echo guided valvuloplasty of a stenotic tricuspid prosthetic valve in a patient with idiopathic hypereosinophilic syndrome. (16640713)
2006
31
Interferon treatment for hypereosinophilic syndromes and systemic mastocytosis. (15995323)
2005
32
Thrombotic microangiopathy associated with the hypereosinophilic syndrome. (15840027)
2005
33
The hypereosinophilic syndrome: idiopathic or not, that is the question. (15921372)
2005
34
Hypereosinophilic syndrome: long-term remission following allogeneic stem cell transplant in spite of transient eosinophilia post-transplant. (15609294)
2005
35
Alemtuzumab therapy for refractory idiopathic hypereosinophilic syndrome. (14984510)
2004
36
Successful treatment of hypereosinophilic syndrome after remission of acute lymphoblastic leukemia in a patient who underwent non-myeloablative stem cell transplantation. (15075099)
2004
37
Rapid reversion of Loeffler's endocarditis by imatinib in early stage clonal hypereosinophilic syndrome. (15621768)
2004
38
Safety and efficacy of the monoclonal anti-interleukin-5 antibody SCH55700 in the treatment of patients with hypereosinophilic syndrome. (15070668)
2004
39
Imatinib-mesylate for all patients with hypereosinophilic syndrome? (15158099)
2004
40
Idiopathic hypereosinophilic syndrome manifesting as pulmonary oedema. (12723663)
2003
41
Hypereosinophilic syndrome with pulmonary and cardiac involvement in a patient with asthma. (12538545)
2003
42
Hypereosinophilic dermatosis: skin lesions as the only manifestation of the idiopathic hypereosinophilic syndrome? (10971369)
2000
43
Hypereosinophilic syndrome. (10681232)
2000
44
Interferon-alpha in the idiopathic hypereosinophilic syndrome: consideration of five cases. (9829847)
1998
45
Wells' syndrome associated with idiopathic hypereosinophilic syndrome. (9470919)
1997
46
Sclerosing cholangitis associated with hypereosinophilic syndrome. (9260773)
1997
47
Hypereosinophilic syndrome or chronic eosinophilic leukemia: report of a case with a lytic bone lesion. (9180305)
1997
48
Idiopathic hypereosinophilic syndrome and pregnancy. (9197455)
1997
49
Idiopathic hypereosinophilic syndrome revealed by central nervous system dysfunction. (8711988)
1996
50
alpha-Interferon and hypereosinophilic syndrome with trisomy 8: karyotypic remission. (7718904)
1995

Variations for Hypereosinophilic Syndrome

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Expression for genes affiliated with Hypereosinophilic Syndrome

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Expression patterns in normal tissues for genes affiliated with Hypereosinophilic Syndrome

Search GEO for disease gene expression data for Hypereosinophilic Syndrome.

Pathways for genes affiliated with Hypereosinophilic Syndrome

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Pathways related to Hypereosinophilic Syndrome according to GeneCards/GeneDecks:

(show all 31)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PDGFRB, PDGFRA
2
Show member pathways
PDGF Pathway37
9.6PDGFRB, PDGFRA
39.6PDGFRB, PDGFRA
49.6PDGFRB, PDGFRA
59.6PDGFRB, PDGFRA
69.6PDGFRB, PDGFRA
79.6PDGFRA, PDGFRB
89.5KIT, PDGFRA
99.3KIT, IL5
10
Show member pathways
9.1IL5, PDGFRA, PDGFRB
11
Show member pathways
9.0KIT, PDGFRB, PDGFRA
12
Show member pathways
9.0PDGFRA, PDGFRB, KIT
13
Show member pathways
9.0PDGFRA, PDGFRB, KIT
149.0KIT, PDGFRB, PDGFRA
15
Show member pathways
9.0PDGFRA, PDGFRB, KIT
16
Show member pathways
9.0PDGFRA, PDGFRB, KIT
17
Show member pathways
9.0PDGFRA, PDGFRB, KIT
18
Show member pathways
9.0KIT, PDGFRB, PDGFRA
199.0PDGFRA, PDGFRB, KIT
20
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.0KIT, PDGFRB, PDGFRA
219.0KIT, PDGFRB, PDGFRA
22
Show member pathways
9.0PDGFRA, PDGFRB, KIT
23
Show member pathways
9.0KIT, PDGFRB, PDGFRA
24
Show member pathways
9.0KIT, PDGFRB, PDGFRA
25
Show member pathways
9.0KIT, PDGFRB, PDGFRA
26
Show member pathways
8.6RNASE3, EPX, IL5
27
Show member pathways
8.5IL5, PDGFRA, PDGFRB, KIT
28
Show member pathways
8.5IL5, PDGFRA, PDGFRB, KIT
29
Show member pathways
8.5IL5, PDGFRA, PDGFRB, KIT
30
Show member pathways
8.5IL5, PDGFRA, PDGFRB, KIT
31
Show member pathways
8.5IL5, PDGFRA, PDGFRB, KIT

Compounds for genes affiliated with Hypereosinophilic Syndrome

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Compounds related to Hypereosinophilic Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1su 66686110.0PDGFRB, PDGFRA
2su 16f6110.0PDGFRB, PDGFRA
3dmpq dihydrochloride6110.0PDGFRB, PDGFRA
4sunitinib malate6110.0PDGFRA, PDGFRB
5mometasone furoate44 6110.8RNASE3, IL5
6unicap449.8RNASE3, IL5
7levocabastine44 28 1111.8IL5, RNASE3
8su6668449.7PDGFRB, KIT
9beclomethasone dipropionate449.7IL5, RNASE3
10toluene diisocyanate449.7IL5, RNASE3
11zd6474449.7KIT, PDGFRB
12nedocromil sodium449.7RNASE3, IL5
13su5416449.5KIT, PDGFRB
14pranlukast44 28 1111.5IL5, RNASE3
15praziquantel44 1110.5RNASE3, IL5
16pkc 412449.5PDGFRA, PDGFRB, KIT
17ag-1296449.5PDGFRA, PDGFRB, KIT
18pazopanib50 1110.5PDGFRA, PDGFRB, KIT
19sunitinib44 50 1111.5PDGFRA, PDGFRB, KIT
20regorafenib50 1110.4KIT, PDGFRB, PDGFRA
21tele-methylhistamine449.4EPX, RNASE3
22ltd4449.4IL5, RNASE3
23capecitabine44 50 1111.4PDGFRB, KIT
24sephadex449.3RNASE3, EPX
25azelastine44 1110.1IL5, RNASE3
26sodium cromoglycate449.1RNASE3, EPX, IL5
27lte4449.1RNASE3, EPX, IL5
28cetirizine44 28 24 1112.1RNASE3, EPX, IL5
29salmeterol44 50 28 1112.0RNASE3, EPX, IL5
30ketotifen44 1110.0RNASE3, EPX, IL5
31ltc4449.0IL5, EPX, RNASE3
32budesonide44 50 1111.0RNASE3, EPX, IL5
33salbutamol44 50 28 24 1113.0IL5, EPX, RNASE3
34pgd2449.0IL5, EPX, RNASE3
35allergens449.0IL5, EPX, RNASE3
36theophylline44 28 24 1112.0IL5, EPX, RNASE3
37leukotriene b444 61 2411.0RNASE3, EPX, IL5
38prednisolone44 28 1110.9RNASE3, EPX, IL5
39paraffin448.9IL5, PDGFRA, PDGFRB, KIT
40p002448.8KIT, EPX, RNASE3
41fmlp448.8IL5, EPX, RNASE3
42formaldehyde44 249.8KIT, EPX, RNASE3
43oligonucleotide448.7KIT, PDGFRB, PDGFRA, RNASE3
44imatinib44 50 1110.5KIT, PDGFRB, PDGFRA, IL5, FIP1L1
45h2o2448.4RNASE3, EPX, IL5, PDGFRB
46adp44 28 2410.4RNASE3, PDGFRA, PDGFRB, KIT
47histamine44 28 2410.4RNASE3, EPX, IL5, KIT
48vegf448.4RNASE3, IL5, PDGFRA, PDGFRB, KIT
49retinoic acid44 249.4RNASE3, IL5, PDGFRA, PDGFRB, KIT
50tyrosine447.2RNASE3, EPX, FIP1L1, IL5, PDGFRA, PDGFRB

GO Terms for genes affiliated with Hypereosinophilic Syndrome

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Cellular components related to Hypereosinophilic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of plasma membraneGO:0312269.6PDGFRB, PDGFRA

Biological processes related to Hypereosinophilic Syndrome according to GeneCards/GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular capillary formationGO:07227710.0PDGFRA, PDGFRB
2positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:03809110.0PDGFRA, PDGFRB
3retina vasculature development in camera-type eyeGO:06129810.0PDGFRB, PDGFRA
4cardiac myofibril assemblyGO:0550039.9PDGFRB, PDGFRA
5adrenal gland developmentGO:0303259.8PDGFRB, PDGFRA
6platelet-derived growth factor receptor signaling pathwayGO:0480089.8PDGFRA, PDGFRB
7wound healingGO:0420609.6PDGFRA, PDGFRB
8positive regulation of ERK1 and ERK2 cascadeGO:0703749.6PDGFRB, PDGFRA
9positive regulation of JAK-STAT cascadeGO:0464279.6KIT, IL5
10positive regulation of phospholipase C activityGO:0108639.4KIT, PDGFRB, PDGFRA
11positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.4KIT, PDGFRB, PDGFRA
12cell chemotaxisGO:0603269.4PDGFRA, PDGFRB, KIT
13positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.4KIT, PDGFRB, PDGFRA
14peptidyl-tyrosine phosphorylationGO:0181089.3KIT, PDGFRB, PDGFRA
15positive regulation of cell migrationGO:0303359.3PDGFRA, PDGFRB, KIT
16phosphatidylinositol-mediated signalingGO:0480159.3KIT, PDGFRB, PDGFRA
17protein autophosphorylationGO:0467779.3PDGFRA, PDGFRB, KIT
18fibroblast growth factor receptor signaling pathwayGO:0085439.3KIT, PDGFRB, PDGFRA
19Fc-epsilon receptor signaling pathwayGO:0380959.2PDGFRA, PDGFRB, KIT
20positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.2KIT, IL5
21epidermal growth factor receptor signaling pathwayGO:0071739.2KIT, PDGFRB, PDGFRA
22neurotrophin TRK receptor signaling pathwayGO:0480119.1KIT, PDGFRB, PDGFRA
23positive regulation of cell proliferationGO:0082849.1KIT, PDGFRB, PDGFRA
24innate immune responseGO:0450878.7KIT, PDGFRB, PDGFRA

Molecular functions related to Hypereosinophilic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vascular endothelial growth factor bindingGO:0380859.7PDGFRB, PDGFRA
2platelet-derived growth factor bindingGO:0484079.6PDGFRB, PDGFRA
3platelet-derived growth factor receptor bindingGO:0051619.5PDGFRA, PDGFRB
4protein tyrosine kinase activityGO:0047139.4KIT, PDGFRB
5transmembrane receptor protein tyrosine kinase activityGO:0047149.2KIT, PDGFRA

Products for genes affiliated with Hypereosinophilic Syndrome

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  • Antibodies
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Sources for Hypereosinophilic Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet