ITP
MCID: ATM004
MIFTS: 62

Autoimmune Thrombocytopenic Purpura (ITP) malady

Immune, Blood categories

Summaries for Autoimmune Thrombocytopenic Purpura

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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NIH Rare Diseases:43 Idiopathic thrombocytopenic purpura (itp) is a bleeding disorder characterized by too few platelets in the blood. this is because platelets are being destroyed by the immune system. symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. with treatment, the chance of remission (a symptom-free period) is good. rarely, itp may become a chronic ailment in adults and reappear, even after remission. last updated: 4/22/2011

MalaCards: Autoimmune Thrombocytopenic Purpura, also known as thrombocytopenic purpura, autoimmune, is related to thrombocytopenia and graves' disease. An important gene associated with Autoimmune Thrombocytopenic Purpura is FCGR2C (Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)), and among its related pathways are Malaria and Primary immunodeficiency. The drugs immunoglobulins, intravenous and cyclophosphamide and the compounds aspartate and gamma globulin have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and spleen, and related mouse phenotypes are integument and cellular.

Disease Ontology:8 A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.

Wikipedia:64 Idiopathic thrombocytopenic purpura (ITP), also known as primary immune thrombocytopenic purpura and... more...

Description from OMIM:47 188030

Aliases & Classifications for Autoimmune Thrombocytopenic Purpura

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
thrombocytopenic purpura, autoimmune:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Variable


Aliases & Descriptions:

autoimmune thrombocytopenic purpura 8 43 10
thrombocytopenic purpura, autoimmune 9 47 49
immune thrombocytopenic purpura 8 49 61
idiopathic thrombocytopenic purpura 8 43
itp 43 49
thrombocytopenia due to platelet alloimmunization 61
purpura, thrombocytopenic, idiopathic 61
thrombocytopenic purpura autoimmune 43
purpura thrombocytopenic idiopathic 45
primary thrombocytopenic purpura 8
immune thrombocytopenia 49


External Ids:

Disease Ontology8 DOID:8924
NCIt40 C3446
OMIM47 188030
MeSH35 D016553
MESH via Orphanet36 D016553
ICD10 via Orphanet26 D69.3
SNOMED-CT via Orphanet58 234490009
UMLS via Orphanet62 C0398650
ICD1025 D69.3

Related Diseases for Autoimmune Thrombocytopenic Purpura

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Autoimmune Thrombocytopenic Purpura via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 318)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia30.9IFNA2, ADAMTS13, SELP, THPO, NAAA, RECK
2graves' disease30.6CD40, IL2RA
3hepatitis c30.6IFNA2, IFNA1, CD40LG, THPO
4systemic lupus erythematosus30.6IFNA1, MPL, CD40, CD40LG, CD79A, RECK
5autoimmune hemolytic anemia30.5CD79A, CD40LG
6hepatitis e30.5CD40LG
7ulcerative colitis30.5CD79A, IL2RA, THPO, SELP
8polymyositis30.3CD40
9thrombocytopenia due to platelet alloimmunization30.3ITGA2B, MPL, THPO, SELP
10mumps30.3CD79A
11kaposi's sarcoma30.3IFNA1
12portal vein thrombosis30.3THPO
13arteriosclerosis30.3CD40
14stroke, ischemic30.3ITGA2B
15hepatitis d30.3IFNA2, IFNA1
16acute leukemia30.3THPO, MPL
17evans' syndrome30.3ADAMTS13
18thrombocytosis30.3IFNA2, IFNA1, MPL, THPO, SELP
19hepatitis b30.3IFNA2, IFNA1, CD79A
20vasculitis30.3SELP, CD79A, CD40LG, IFNA2
21viral hepatitis30.3IFNA2, IFNA1
22acute lymphocytic leukemia30.3THPO, RECK, CD40, MPL
23thyroiditis30.2IFNA1, CD79A
24celiac disease30.2CD79A
25measles30.2RECK, CD79A, CD40LG
26bernard-soulier syndrome30.2ITGB3, ITGA2B, ITGA2, RECK, THPO
27rubella30.2CD79A, CD40LG
28splenomegaly30.2IFNA2, IFNA1, MPL, IL2RA, THPO
29common variable immune deficiency30.2CD40, CD40LG, CD79A, IL2RA
30antiphospholipid syndrome30.2CD40LG, CD79A, SELP, ADAMTS13
31polycythemia vera30.2IFNA2, IFNA1, ITGB3, MPL, THPO, SELP
32deficiency anemia30.2IFNA2, IFNA1, MPL, CD79A, NAAA, THPO
33infectious mononucleosis30.1CD40LG, CD79A
34macroglobulinemia29.9CD79A
35thromboembolism29.9ITGA2, SELP
36vascular disease29.9ITGB3, ITGA2, RECK, SELP
37cadasil29.9ITGB3, ITGA2, CD40, SELP, ADAMTS13
38autoimmune hepatitis10.5
39hepatitis a10.5
40nocardiosis10.5
41h. pylori infection10.4
42aplastic anemia10.4
43crohn's disease10.4
44common variable immunodeficiency10.4
45thrombotic thrombocytopenic purpura10.4
46n syndrome10.4
47hemophilia b10.3
48membranous glomerulonephritis10.3
49pituitary apoplexy10.3
50hemoglobinuria10.3

Graphical network of the top 20 diseases related to Autoimmune Thrombocytopenic Purpura:



Diseases related to autoimmune thrombocytopenic purpura

Clinical Features for Autoimmune Thrombocytopenic Purpura

Sources:
47OMIM
See all sources

Clinical features from OMIM:

188030

Clinical synopsis from OMIM:

188030

Drugs & Therapeutics for Autoimmune Thrombocytopenic Purpura

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

Approved drugs:

Search CenterWatch for Autoimmune Thrombocytopenic Purpura

Drug clinical trials:

Search ClinicalTrials for Autoimmune Thrombocytopenic Purpura

Search NIH Clinical Center for Autoimmune Thrombocytopenic Purpura

Search CenterWatch for Autoimmune Thrombocytopenic Purpura

Inferred drug relations via UMLS61/NDF-RT41:

Show with subtypes

Genetic Tests for Autoimmune Thrombocytopenic Purpura

Anatomical Context for Autoimmune Thrombocytopenic Purpura

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Autoimmune Thrombocytopenic Purpura:

33
Skin, Liver, Spleen, Bone marrow, Thyroid, Breast, T cells, B cells, Fetal liver, Fetal thyroid

Animal Models for Autoimmune Thrombocytopenic Purpura or affiliated genes

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

MGI Mouse Phenotypes related to Autoimmune Thrombocytopenic Purpura:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.0RECK, CD40LG, ITGA2, FOXG1
2MP:00053848.0MPL, IL2RA, CD79A, CD40, POU2F3, FOXG1
3MP:00053877.7ITGB3, ITGA2B, MPL, CD40, CD40LG, CD79A
4MP:00053767.5FOXG1, ITGB3, ITGA2B, ITGA2, MPL, CD40
5MP:00053977.4CD40LG, ITGA2B, CD40, ADAMTS13, SELP, THPO

Publications for Autoimmune Thrombocytopenic Purpura

Sources:
51PubMed
See all sources

Articles related to Autoimmune Thrombocytopenic Purpura:

(show top 50)    (show all 235)
idTitleAuthorsYear
1
Measurement and prevalence of circulating ADAMTS13-specific immune complexes in autoimmune thrombotic thrombocytopenic purpura. (24354764)
2013
2
Thrombotic thrombocytopenic purpura (TTP) leading to pseudotumour's autoimmune pancreatitis (AIP): a case report. (23395576)
2013
3
Concurrent celiac disease, idiopathic thrombocytopenic purpura and autoimmune thyroiditis: a case report. (20682594)
2011
4
Risk of immune thrombocytopenic purpura and autoimmune hemolytic anemia among 120 908 US veterans with hepatitis C virus infection. (19237719)
2009
5
Successful treatment of autoimmune lymphoproliferative syndrome and refractory autoimmune thrombocytopenic purpura with a reduced intensity conditioning stem cell transplantation followed by donor lymphocyte infusion. (17618315)
2007
6
Crohn's disease associated with severe autoimmune thrombocytopenic purpura. (17119395)
2006
7
Efficiency of rituximab in the treatment of autoimmune thrombocytopenic purpura associated with common variable immunodeficiency. (16823831)
2006
8
Assessment of a therapeutic strategy for adults with severe autoimmune thrombocytopenic purpura based on a bleeding score rather than platelet count. (15951296)
2005
9
Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature. (15232313)
2004
10
Successful remission of chronic, refractory autoimmune thrombocytopenic purpura following non-myeloablative allogeneic stem cell transplantation. (12692634)
2003
11
Intravenous immunoglobulin or high-dose methylprednisolone, with or without oral prednisone, for adults with untreated severe autoimmune thrombocytopenic purpura: a randomised, multicentre trial. (11809183)
2002
12
Autoimmune thrombocytopenic Purpura and Helicobacter pylori infection. (11996614)
2002
13
Anti-D (WinRho SD) treatment of children with chronic autoimmune thrombocytopenic purpura stimulates transient cytokine/chemokine production. (11891813)
2002
14
Transradial coronary stent placement in a patient with severe idiopathic autoimmune thrombocytopenic purpura. (10904444)
2000
15
Modifications of lymphocyte subsets in autoimmune thrombocytopenic purpura patients submitted to splenectomy. (10897141)
2000
16
Genetic analysis of HLA- and HPA-typing in idiopathic (autoimmune) thrombocytopenic purpura patients treated with cepharanthin. (10435723)
1999
17
Immunobiology of T helper cells and antigen-presenting cells in autoimmune thrombocytopenic purpura (ITP). (9736217)
1998
18
The cellular immunology associated with autoimmune thrombocytopenic purpura: an update. (10351136)
1998
19
Autoimmune thrombocytopenic purpura with intracranial haemorrhage. (11229293)
1998
20
Management of chronic autoimmune thrombocytopenic purpura (ITP) in adults. (10351139)
1998
21
Thrombopoietin, interleukin-6, and P-selectin at diagnosis and during post-steroid recovery period of patients with autoimmune thrombocytopenic purpura. (9829848)
1998
22
Thrombocytopenia in neonates born to women with autoimmune thrombocytopenic purpura. (9211541)
1997
23
Autoimmune thrombocytopenic purpura associated with hyperthyroidism in a single individual. (9305306)
1997
24
Monoclonal anti-D is not effective in the treatment of chronic autoimmune thrombocytopenic purpura. (9111284)
1997
25
Viral hepatitides and idiopathic (autoimmune) thrombocytopenic purpura. Is there any relationship? (9007734)
1996
26
Vincristine for refractory autoimmune thrombocytopenic purpura in pregnancy. A case report. (8551481)
1995
27
High-dose methylprednisolone is an alternative treatment for adults with autoimmune thrombocytopenic purpura refractory to intravenous immunoglobulins and oral corticosteroids. (7717380)
1995
28
Pulse cyclophosphamide therapy for refractory autoimmune thrombocytopenic purpura. (7811992)
1995
29
Incidence of autoantibodies to GPIIb/IIIa in chronic autoimmune thrombocytopenic purpura may be overestimated by the MAIPA. (8199041)
1994
30
Awake, blind nasotracheal intubation for cesarean section in a patient with autoimmune thrombocytopenic purpura and iatrogenic Cushing's syndrome. (8214677)
1993
31
Severe chronic autoimmune thrombocytopenic purpura is associated with an expansion of CD56+ CD3- natural killer cells subset. (7689873)
1993
32
Dapsone for autoimmune thrombocytopenic purpura. (8342569)
1993
33
Autoimmune thrombocytopenic purpura in pregnancy: maternal risk factors predictive of neonatal thrombocytopenia. (8003616)
1993
34
Antiplatelet autoantibody-related microparticles in patients with idiopathic (autoimmune) thrombocytopenic purpura. (2031972)
1991
35
Dapsone for idiopathic autoimmune thrombocytopenic purpura in elderly patients. (1873232)
1991
36
Reduced erythrocyte complement receptor type 1 in autoimmune thrombocytopenic purpura. (1825921)
1991
37
Autoimmune thrombocytopenic purpura. (1690204)
1990
38
In vitro suppressor T lymphocyte dysfunction in autoimmune thrombocytopenic purpura associated with a complement-fixing antibody. (2159316)
1990
39
Autoimmune thrombocytopenic purpura: diagnostic and therapeutic actualities. (2835206)
1988
40
Mechanisms of thrombocytopenia in chronic autoimmune thrombocytopenic purpura. Evidence of both impaired platelet production and increased platelet clearance. (3597777)
1987
41
Low-dose autologous in vitro opsonized erythrocytes. Radioimmune method and autologous opsonized erythrocytes for refractory autoimmune thrombocytopenic purpura in adults. (3026270)
1987
42
Systemic lupus erythematosus in child with autoimmune thrombocytopenic purpura and circulating lupus anticoagulant. (3106634)
1987
43
Immunoregulatory defect in patients with autoimmune thrombocytopenic purpura (ATP). (2949403)
1986
44
Breast-feeding in thrombocytopenic neonates secondary to maternal autoimmune thrombocytopenic purpura. (3706448)
1986
45
Platelet function in idiopathic (autoimmune) thrombocytopenic purpura. (4077821)
1985
46
Treatment of adult autoimmune thrombocytopenic purpura with high-dose intravenous plasmin-cleaved gammaglobulins. (6683424)
1983
47
Antiplatelet antibodies and platelet counts in pregnancies complicated by autoimmune thrombocytopenic purpura. (6682292)
1983
48
Pregnancy in patients with autoimmune thrombocytopenic purpura. (571205)
1979
49
Microthrombocytosis and platelet fragmentation associated with idiopathic/autoimmune thrombocytopenic purpura. (1242095)
1975
50
Autoimmune thrombocytopenic purpura. (4933874)
1971

Genetic Variations for Autoimmune Thrombocytopenic Purpura

Expression for genes affiliated with Autoimmune Thrombocytopenic Purpura

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Autoimmune Thrombocytopenic Purpura

Search GEO for disease gene expression data for Autoimmune Thrombocytopenic Purpura.

Pathways for genes affiliated with Autoimmune Thrombocytopenic Purpura

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database, 50PharmGKB, 52QIAGEN
See all sources

Pathways related to Autoimmune Thrombocytopenic Purpura according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3CD40
210.1CD79A
3
Hide members
9.8ITGB3, ITGA2B, SELP
49.7ITGB3, CD40LG, SELP
59.7ITGA2, ITGA2B, ITGB3
69.7ITGA2, ITGA2B, ITGB3
79.7ITGB3, ITGA2B, ITGA2
89.7CD40, CD40LG, IL2RA
9
Hide members
9.6THPO, MPL, ITGA2B, ITGB3
10
Hide members
9.2IFNA1, MPL, CD40, IL2RA
11
Hide members
9.2THPO, IL2RA, ITGA2, ITGA2B, ITGB3
129.2ITGB3, ITGA2B, ITGA2, IL2RA, THPO
139.1IFNA2, IFNA1, MPL, IL2RA
14
Hide members
8.8THPO, IL2RA, CD79A, ITGA2, ITGA2B, ITGB3
15
Hide members
8.8ITGB3, ITGA2B, ITGA2, CD79A, IL2RA, THPO
16
Hide members
8.8IFNA2, IFNA1, CD40, CD40LG, IL2RA
17
Hide members
8.6IFNA2, IFNA1, ITGB3, ITGA2B, ITGA2, MPL
188.6IFNA2, IFNA1, ITGB3, ITGA2B, ITGA2, IL2RA
19
Hide members
8.5IFNA2, IFNA1, CD40, CD40LG, CD79A, IL2RA
20
Hide members
8.1THPO, IFNA2, IFNA1, ITGB3, ITGA2B, ITGA2

Compounds for genes affiliated with Autoimmune Thrombocytopenic Purpura

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

Compounds related to Autoimmune Thrombocytopenic Purpura according to GeneCards/GeneDecks:

(show top 50)    (show all 129)
idCompoundScoreTop Affiliating Genes
1aspartate4510.5CD40LG
2gamma globulin4510.5IFNA2
3estrogen4510.2CD79A, THPO
4daclizumab45 1110.9CD40LG, FCGR2C, IL2RA
5blys459.9CD40, CD40LG, CD79A
6hydroxychloroquine45 1110.8CD40LG, IL2RA, IFNA2
7creatinine459.7SELP, ADAMTS13, CD79A, THPO
8thromboxane45 2410.7ITGA2, THPO, SELP, MPL
9pentostatin45 60 29 1112.7IFNA2, IL2RA, IFNA1
10tuberculin459.7CD79A, IL2RA, CD40LG
11ivig459.6IL2RA, CD40, CD79A, CD40LG
12alemtuzumab45 1110.6CD40LG, FCGR2C, IL2RA
13anagrelide45 1110.6IFNA2, IFNA1, MPL, THPO
14tirofiban45 1110.6ITGA2B, ITGA2, CD40LG, SELP, ITGB3
15clopidogrel50 45 11 2412.6ITGA2, SELP, CD40LG, CD40, ITGB3
16adp45 29 2411.5MPL, CD40LG, ITGA2B, ITGA2, CD40
17ristocetin459.5RECK, ITGB3, SELP, ADAMTS13
18abciximab45 1110.5FCGR2C, ITGB3, ITGA2B, CD40, CD40LG, SELP
19reticulin459.5MPL, CD79A, IFNA1
20theophylline45 29 11 2412.4CD40LG, CD79A, IL2RA, SELP
21mizoribine459.4IL2RA, IFNA1, IFNA2, CD79A
22agar459.4CD79A, THPO, MPL
23formaldehyde45 2410.4CD40LG, CD79A, ITGA2B, SELP, IL2RA
24dexamethasone45 50 29 1112.3IFNA1, CD79A, CD40LG
25rantes459.3IL2RA, IFNA1, CD40, CD40LG, THPO
26cyclophosphamide45 50 1111.2ADAMTS13, IFNA2, IFNA1, CD40, IL2RA
27prednisolone45 29 1111.1CD79A, IL2RA, CD40, IFNA1, IFNA2
28thalidomide45 50 60 1112.0IFNA1, IFNA2, IL2RA, CD40LG
29mycophenolate mofetil45 50 1110.9IL2RA, SELP, CD79A, CD40LG, CD40, IFNA1
30phosphatidylserine45 29 1110.9ITGB3, SELP, RECK, CD79A, CD40LG
31polyethylene glycol458.9THPO, CD79A, MPL, IFNA1, IFNA2, CD40LG
325fluorouracil458.9IFNA2, IFNA1, THPO, IL2RA, MPL
33histamine45 29 2410.9THPO, IL2RA, CD79A, CD40LG, CD40, IFNA2
34neopterin458.9IL2RA, CD79A, CD40LG, CD40, IFNA2, IFNA1
35vincristine45 50 1110.8ADAMTS13, IFNA2, IFNA1, RECK, IL2RA
36steroid458.8THPO, IFNA2, IL2RA, ADAMTS13, CD79A, ITGB3
37epinephrine45 11 2410.8IL2RA, IFNA2, ITGA2, CD79A, SELP, THPO
38arachidonic acid45 29 11 2411.7IFNA2, ITGA2B, ITGA2, THPO, SELP, RECK
39aspirin45 50 29 2411.7MPL, CD40LG, CD79A, IL2RA, ITGA2, THPO
40doxorubicin45 50 1110.5IFNA2, CD40LG, RECK, IL2RA, IFNA1, CD40
41polysaccharide458.5CD79A, ITGA2, RECK, IL2RA, THPO, SELP
42rituximab45 50 1110.5FCGR2C, CD40, IFNA1, IFNA2, CD40LG, CD79A
43lysine458.4ITGA2B, ITGA2, MPL, RECK, ITGB3, IL2RA
44cyclosporin a45 29 6010.0IFNA1, CD40, CD40LG, CD79A, RECK, IL2RA
45fibrinogen457.9THPO, ADAMTS13, SELP, ITGB3, ITGA2B, ITGA2
46vegf457.9IFNA2, IFNA1, MPL, CD40, IL2RA, SELP
47retinoic acid45 248.5POU2F3, CD40, CD40LG, CD79A, ITGA2, IFNA1
48tyrosine457.4SELP, THPO, MPL, CD40, RECK, ITGA2
49heparin45 29 11 2410.4RECK, ADAMTS13, SELP, CD79A, ITGA2, IL2RA
50cysteine457.3IL2RA, THPO, SELP, RECK, CD79A, CD40LG

GO Terms for genes affiliated with Autoimmune Thrombocytopenic Purpura

Sources:
16Gene Ontology
See all sources

Cellular components related to Autoimmune Thrombocytopenic Purpura according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule membraneGO:0310929.7SELP, ITGA2B, ITGB3
2integrin complexGO:0083059.4ITGB3, ITGA2B, ITGA2
3external side of plasma membraneGO:0098978.5SELP, ITGA2B, ITGA2, CD40, CD40LG, CD79A
4plasma membraneGO:0058867.2ITGA2B, ITGA2, MPL, CD40, CD40LG, CD79A

Biological processes related to Autoimmune Thrombocytopenic Purpura according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1regulation of immunoglobulin secretionGO:05102310.0CD40LG, CD40
2positive regulation of endothelial cell apoptotic processGO:200035310.0CD40LG, CD40
3B cell proliferationGO:0421009.8CD79A, CD40LG, CD40
4platelet degranulationGO:0025769.7ITGB3, ITGA2B, SELP
5integrin-mediated signaling pathwayGO:0072299.6ITGB3, ITGA2B, ITGA2, ADAMTS13
6cell-matrix adhesionGO:0071609.5ITGB3, ITGA2B, ITGA2, ADAMTS13
7inflammatory responseGO:0069549.4SELP, CD40LG, CD40, IFNA2
8blood coagulationGO:0075968.9IFNA2, ITGB3, ITGA2B, ITGA2, MPL, THPO
9platelet activationGO:0301688.8ADAMTS13, ITGB3, ITGA2B, MPL, CD40, CD40LG
10extracellular matrix organizationGO:0301988.8RECK, ITGA2, ITGA2B, ITGB3

Products for genes affiliated with Autoimmune Thrombocytopenic Purpura

  • Antibodies
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  • Antibodies

Sources for Autoimmune Thrombocytopenic Purpura

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