MCID: HYP098
MIFTS: 55

Hypereosinophilic Syndrome malady

Genetic diseases, Rare diseases, Blood diseases, Cancer diseases categories

Aliases & Classifications for Hypereosinophilic Syndrome

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Sources:
41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 37NCBI Bookshelf, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Hypereosinophilic Syndrome, Aliases & Descriptions:

Name: Hypereosinophilic Syndrome 41 20 43 47 60
Hes 41 47 37
Disseminated Eosinophilic Collagen Disease 60
 
Hypereosinophilic Syndrome, Idiopathic 41
Idiopathic Hypereosinophilic Syndrome 60
Chronic Eosinophilic Leukemia 60


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
hypereosinophilic syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (United States),1-9/100000 (Europe); Age of onset: All ages; Age of death: any age


External Ids:

Orphanet47 168956
MESH via Orphanet34 D017681
ICD10 via Orphanet26 D47.5
UMLS via Orphanet61 C1540912

Summaries for Hypereosinophilic Syndrome

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NIH Rare Diseases:41 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 hes, 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 drugs hydroxyurea and interferon alfa-2a and 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:63 The hypereosinophilic syndrome (HES) is a disease characterized by a persistently elevated eosinophil... more...

Related Diseases for Hypereosinophilic Syndrome

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Diseases in the Hypereosinophilic Syndrome family:

Secondary Hypereosinophilic Syndrome

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

(show top 50)    (show all 262)
idRelated DiseaseScoreTop Affiliating Genes
1endomyocardial fibrosis31.2FIP1L1, PDGFRA
2systemic mastocytosis31.0PDGFRB
3myelofibrosis30.6PDGFRB, FIP1L1, PDGFRA
4churg-strauss syndrome30.6IL5, RNASE3
5urticaria30.5RNASE3
6bullous pemphigoid30.1IL5, RNASE3
7hypereosinophilic syndrome, idiopathic, resistant to imatinib30.1FIP1L1, PDGFRA, KIT, IL5, PDGFRB
8bronchitis30.1IL5, RNASE3
9leukemia30.0EPX, KIT, RNASE3, PDGFRB, FIP1L1, PDGFRA
10asthma30.0IL5, EPX, RNASE3
11sarcoma29.9PDGFRB, PDGFRA, KIT
12mastocytosis29.9KIT, FIP1L1, IL5, PDGFRA, PDGFRB
13eosinophilia29.8PDGFRB, PDGFRA, EPX, IL5, RNASE3, FIP1L1
14endocarditis10.5
15cerebritis10.5
16colitis10.5
17paragonimiasis10.4IL5
18chronic rhinitis10.4RNASE3
19mycobacterium xenopi10.4
20conjunctivitis10.4RNASE3
21collagenous colitis10.4RNASE3
22myocardial infarction10.4
23hepatitis10.4
24restrictive cardiomyopathy10.4
25vasculitis10.4
26eosinophilic gastroenteritis10.3
27gastroenteritis10.3
28aneurysm10.3
29lymphocytic hypereosinophilic syndrome10.3
30secondary hypereosinophilic syndrome10.3
31eosinophilic colitis10.3
32bone marrow cancer10.3PDGFRA, PDGFRB
33peripheral t-cell lymphoma10.3
34cystitis10.3
35myocarditis10.3
36lymphomatoid papulosis10.3
37wells syndrome10.3
38hypereosinophilic syndrome of undetermined significance10.3
39ruijs-aalfs syndrome10.3
40chordoma10.2PDGFRA, PDGFRB
41gastrointestinal stromal tumor10.2KIT, PDGFRA
42mast cell disease10.2
43acute myocardial infarction10.2
44ulcerative colitis10.2
45disseminated intravascular coagulation10.2
46lymphoblastic leukemia10.2
47mesenchymal cell neoplasm10.2PDGFRA, KIT
48kimura disease10.2RNASE3, IL5
49schistosomiasis10.2RNASE3, IL5
50carney triad10.2KIT, PDGFRA

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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Genetic Tests for Hypereosinophilic Syndrome

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Genetic tests related to Hypereosinophilic Syndrome:

id Genetic test Affiliating Genes
1 Hypereosinophilic Syndrome20 PDGFRA

Anatomical Context for Hypereosinophilic Syndrome

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MalaCards organs/tissues related to Hypereosinophilic Syndrome:

31
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:

35
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 575)
idTitleAuthorsYear
1
MRI-based Evidence for Myocardial Involvement in Women with Hypereosinophilic Syndrome. (25740233)
2015
2
CD30+ clonal T-cell lymphoid proliferation of the skin in a patient with hypereosinophilic syndrome. (25421540)
2015
3
Hypereosinophilic syndrome with large intracardiac thrombus. (25189313)
2014
4
Pediatric idiopathic hypereosinophilic syndrome with Gianotti-Crosti syndrome: a novel presentation. (24738625)
2014
5
Eosinophilic cystitis presented as a manifestation of hypereosinophilic syndrome: a case report and review of the literature. (23573073)
2013
6
Hypereosinophilic syndrome masquerading as a myocardial infarction causing decompensated heart failure. (24053402)
2013
7
Effect of cyclosporine on lymphocytic variant hypereosinophilic syndrome. (23669338)
2013
8
A case of dermatopathic lymphadenopathy associated with hypereosinophilic syndrome. (22499479)
2012
9
Long-term remission of lymphocytic hypereosinophilic syndrome with imatinib mesylate. (21919038)
2012
10
Gadolinium-enhanced cardiovascular magnetic resonance for the detection and characterization of Loeffler endocarditis in patients with hypereosinophilic syndrome. (21963210)
2011
11
Hypereosinophilic syndrome presenting with large left ventricular apical thrombus and pulmonary embolism. (21854430)
2011
12
An 8-year-old boy with hypereosinophilic syndrome. (21646806)
2011
13
Medical therapy alone produces regression of combined aortic and mitral valve involvement in hypereosinophilic syndrome. (20956234)
2010
14
Hypereosinophilic syndromes: pathogenic and therapeutic up-to-date]. (20303627)
2010
15
The proportion of CD3- CD4+ T-cell population remained unaffected after corticosteroids treatment for lymphocytic variant hypereosinophilic syndrome (L-HES). (20883323)
2010
16
Mepolizumab as a corticosteroid-sparing agent in lymphocytic variant hypereosinophilic syndrome. (20810155)
2010
17
Endomyocardial disease related to idiopathic hypereosinophilic syndrome: a cardiac magnetic resonance evaluation. (20396876)
2010
18
Wells Syndrome with Multiorgan Involvement Mimicking Hypereosinophilic Syndrome. (20652113)
2009
19
A novel FIP1L1-PDGFRA mutant destabilizing the inactive conformation of the kinase domain in chronic eosinophilic leukemia/hypereosinophilic syndrome. (19210352)
2009
20
Successful treatment of refractory idiopathic hypereosinophilic syndrome with etoposide. (19142161)
2009
21
Oral mucosa lesions in hypereosinophilic syndrome--an update. (18194138)
2008
22
Hypereosinophilic syndrome with isolated Loeffler's endocarditis: complete resolution with corticosteroids. (18480530)
2008
23
Hypereosinophilic syndrome and mepolizumab. (18584819)
2008
24
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
25
Bullous pemphigoid associated with hypereosinophilic syndrome: simultaneous response to imatinib. (17097375)
2007
26
Eosinophilic ascites as the first sign of idiopathic hypereosinophilic syndrome in childhood. (17881935)
2007
27
Factor V Leiden mutation and deep venous thrombosis in a patient with hypereosinophilic syndrome. (16951787)
2006
28
Current concepts on the pathogenesis of the hypereosinophilic syndrome/chronic eosinophilic leukemia. (23662039)
2006
29
Hypereosinophilic syndrome: lymphoproliferative and myeloproliferative variants. (16612767)
2006
30
Control of hypereosinophilic syndrome-associated recalcitrant coronary artery spasm by combined treatment with prednisone, imatinib mesylate and hydroxyurea. (18651015)
2006
31
Selective priming of peripheral blood eosinophils in patients with idiopathic hypereosinophilic syndrome. (17078855)
2006
32
Intracardiac echo guided valvuloplasty of a stenotic tricuspid prosthetic valve in a patient with idiopathic hypereosinophilic syndrome. (16640713)
2006
33
Interferon treatment for hypereosinophilic syndromes and systemic mastocytosis. (15995323)
2005
34
Thrombotic microangiopathy associated with the hypereosinophilic syndrome. (15840027)
2005
35
The hypereosinophilic syndrome: idiopathic or not, that is the question. (15921372)
2005
36
Hypereosinophilic syndrome: long-term remission following allogeneic stem cell transplant in spite of transient eosinophilia post-transplant. (15609294)
2005
37
Alemtuzumab therapy for refractory idiopathic hypereosinophilic syndrome. (14984510)
2004
38
Successful treatment of hypereosinophilic syndrome after remission of acute lymphoblastic leukemia in a patient who underwent non-myeloablative stem cell transplantation. (15075099)
2004
39
Rapid reversion of Loeffler's endocarditis by imatinib in early stage clonal hypereosinophilic syndrome. (15621768)
2004
40
Safety and efficacy of the monoclonal anti-interleukin-5 antibody SCH55700 in the treatment of patients with hypereosinophilic syndrome. (15070668)
2004
41
Imatinib-mesylate for all patients with hypereosinophilic syndrome? (15158099)
2004
42
Idiopathic hypereosinophilic syndrome manifesting as pulmonary oedema. (12723663)
2003
43
Hypereosinophilic syndrome with pulmonary and cardiac involvement in a patient with asthma. (12538545)
2003
44
Hypereosinophilic dermatosis: skin lesions as the only manifestation of the idiopathic hypereosinophilic syndrome? (10971369)
2000
45
Interferon-alpha in the idiopathic hypereosinophilic syndrome: consideration of five cases. (9829847)
1998
46
Wells' syndrome associated with idiopathic hypereosinophilic syndrome. (9470919)
1997
47
Sclerosing cholangitis associated with hypereosinophilic syndrome. (9260773)
1997
48
Hypereosinophilic syndrome or chronic eosinophilic leukemia: report of a case with a lytic bone lesion. (9180305)
1997
49
Idiopathic hypereosinophilic syndrome and pregnancy. (9197455)
1997
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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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 Suite gene sharing:

(show all 31)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PDGFRB, PDGFRA
2
Show member pathways
PDGF Pathway36
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 signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
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 Suite gene sharing:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1su 66685910.0PDGFRB, PDGFRA
2su 16f5910.0PDGFRB, PDGFRA
3dmpq dihydrochloride5910.0PDGFRB, PDGFRA
4sunitinib malate5910.0PDGFRA, PDGFRB
5mometasone furoate43 5910.8RNASE3, IL5
6unicap439.8RNASE3, IL5
7levocabastine43 28 1211.8IL5, RNASE3
8su6668439.7PDGFRB, KIT
9beclomethasone dipropionate439.7IL5, RNASE3
10toluene diisocyanate439.7IL5, RNASE3
11zd6474439.7KIT, PDGFRB
12nedocromil sodium439.7RNASE3, IL5
13su5416439.5KIT, PDGFRB
14pranlukast43 28 1211.5IL5, RNASE3
15praziquantel43 1210.5RNASE3, IL5
16pkc 412439.5PDGFRA, PDGFRB, KIT
17ag-1296439.5PDGFRA, PDGFRB, KIT
18pazopanib49 1210.5PDGFRA, PDGFRB, KIT
19sunitinib43 49 1211.5PDGFRA, PDGFRB, KIT
20regorafenib49 1210.4KIT, PDGFRB, PDGFRA
21tele-methylhistamine439.4EPX, RNASE3
22ltd4439.4IL5, RNASE3
23capecitabine43 49 1211.4PDGFRB, KIT
24sephadex439.3RNASE3, EPX
25azelastine43 1210.1IL5, RNASE3
26sodium cromoglycate439.1RNASE3, EPX, IL5
27lte4439.1RNASE3, EPX, IL5
28cetirizine43 28 24 1212.1RNASE3, EPX, IL5
29salmeterol43 49 28 1212.0RNASE3, EPX, IL5
30ketotifen43 1210.0RNASE3, EPX, IL5
31ltc4439.0IL5, EPX, RNASE3
32budesonide43 49 1211.0RNASE3, EPX, IL5
33salbutamol43 49 28 24 1213.0IL5, EPX, RNASE3
34pgd2439.0IL5, EPX, RNASE3
35allergens439.0IL5, EPX, RNASE3
36theophylline43 28 24 1212.0IL5, EPX, RNASE3
37leukotriene b443 59 2411.0RNASE3, EPX, IL5
38prednisolone43 28 1210.9RNASE3, EPX, IL5
39paraffin438.9IL5, PDGFRA, PDGFRB, KIT
40p002438.8KIT, EPX, RNASE3
41fmlp438.8IL5, EPX, RNASE3
42formaldehyde43 249.8KIT, EPX, RNASE3
43oligonucleotide438.7KIT, PDGFRB, PDGFRA, RNASE3
44imatinib43 49 1210.5KIT, PDGFRB, PDGFRA, IL5, FIP1L1
45h2o2438.4RNASE3, EPX, IL5, PDGFRB
46adp43 28 2410.4RNASE3, PDGFRA, PDGFRB, KIT
47histamine43 28 2410.4RNASE3, EPX, IL5, KIT
48vegf438.4RNASE3, IL5, PDGFRA, PDGFRB, KIT
49retinoic acid43 249.4RNASE3, IL5, PDGFRA, PDGFRB, KIT
50tyrosine437.2RNASE3, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of plasma membraneGO:00312269.6PDGFRB, PDGFRA

Biological processes related to Hypereosinophilic Syndrome according to GeneCards Suite gene sharing:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular capillary formationGO:007227710.0PDGFRA, PDGFRB
2positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:003809110.0PDGFRA, PDGFRB
3retina vasculature development in camera-type eyeGO:006129810.0PDGFRB, PDGFRA
4cardiac myofibril assemblyGO:00550039.9PDGFRB, PDGFRA
5adrenal gland developmentGO:00303259.8PDGFRB, PDGFRA
6platelet-derived growth factor receptor signaling pathwayGO:00480089.8PDGFRA, PDGFRB
7wound healingGO:00420609.6PDGFRA, PDGFRB
8positive regulation of ERK1 and ERK2 cascadeGO:00703749.6PDGFRB, PDGFRA
9positive regulation of JAK-STAT cascadeGO:00464279.6KIT, IL5
10positive regulation of phospholipase C activityGO:00108639.4KIT, PDGFRB, PDGFRA
11positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.4KIT, PDGFRB, PDGFRA
12cell chemotaxisGO:00603269.4PDGFRA, PDGFRB, KIT
13positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.4KIT, PDGFRB, PDGFRA
14peptidyl-tyrosine phosphorylationGO:00181089.3KIT, PDGFRB, PDGFRA
15positive regulation of cell migrationGO:00303359.3PDGFRA, PDGFRB, KIT
16phosphatidylinositol-mediated signalingGO:00480159.3KIT, PDGFRB, PDGFRA
17protein autophosphorylationGO:00467779.3PDGFRA, PDGFRB, KIT
18fibroblast growth factor receptor signaling pathwayGO:00085439.3KIT, PDGFRB, PDGFRA
19Fc-epsilon receptor signaling pathwayGO:00380959.2PDGFRA, PDGFRB, KIT
20positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.2KIT, IL5
21epidermal growth factor receptor signaling pathwayGO:00071739.2KIT, PDGFRB, PDGFRA
22neurotrophin TRK receptor signaling pathwayGO:00480119.1KIT, PDGFRB, PDGFRA
23positive regulation of cell proliferationGO:00082849.1KIT, PDGFRB, PDGFRA
24innate immune responseGO:00450878.7KIT, PDGFRB, PDGFRA

Molecular functions related to Hypereosinophilic Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1vascular endothelial growth factor bindingGO:00380859.7PDGFRB, PDGFRA
2platelet-derived growth factor bindingGO:00484079.6PDGFRB, PDGFRA
3platelet-derived growth factor receptor bindingGO:00051619.5PDGFRA, PDGFRB
4protein tyrosine kinase activityGO:00047139.4KIT, PDGFRB
5transmembrane receptor protein tyrosine kinase activityGO:00047149.2KIT, PDGFRA

Products for genes affiliated with Hypereosinophilic Syndrome

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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet