APS
MCID: ANT006
MIFTS: 67

Antiphospholipid Syndrome (APS) malady

Immune diseases, Genetic diseases categories

Summaries for Antiphospholipid Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body, but most frequently occur in the vessels of the lower limbs. If a blood clot forms in the vessels in the brain, blood flow is impaired and can lead to stroke. Antiphospholipid syndrome is an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs.

MalaCards: Antiphospholipid Syndrome, also known as antiphospholipid antibody syndrome, is related to lupus erythematosus and systemic lupus erythematosus. An important gene associated with Antiphospholipid Syndrome is ATPLS (antiphospholipid syndrome, familial), and among its related pathways are Complement and coagulation cascades and Collagen biosynthesis and modifying enzymes. The compounds homocysteine and creatinine have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and testes, and related mouse phenotypes are homeostasis/metabolism and cardiovascular system.

Disease Ontology:8 An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).

NIH Rare Diseases:42 Antiphospholipid syndrome is an autoimmune disorder. it is characterized by high levels of multiple different antibodies that are associated with clots in the arteries and veins. symptoms vary and can include blood clots, miscarriage, rash, chronic headaches, dementia, and seizures. treatment involves thinning the blood to reduce clotting. last updated: 2/13/2009

NINDS:43 Antiphospholipid syndrome (APS) is an autoimmune disorder caused when antibodies -- immune system cells that fight off bacteria and viruses -- mistakenly attack healthy body tissues and organs.

Wikipedia:63 Antiphospholipid syndrome or antiphospholipid antibody syndrome (APS or APLS or), often also Hughes... more...

Description from OMIM:46 107320

Aliases & Classifications for Antiphospholipid Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Immune diseases


Aliases & Descriptions:

antiphospholipid syndrome 8 42 22 21 43 10 44 60
antiphospholipid antibody syndrome 8 42 21
hughes syndrome 42 21 43
antiphospholipid syndrome, familial 46
familial antiphospholipid syndrome 42
lupus anticoagulant, familial 42
anti-phospholipid syndrome 21
aps 42


External Ids:

Disease Ontology8 DOID:2988
NCIt39 C61283
MeSH34 D016736
OMIM46 107320

Related Diseases for Antiphospholipid Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Antiphospholipid Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 396)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus31.3SERPINC1, F2, F3, CD79A, CD40LG, ANXA5
2systemic lupus erythematosus31.2ADAMTS13, SULT1A3, CFH, F2, F3, CD79A
3hypertension30.7F2, CD79A, MTHFR, F5
4hellp syndrome30.7ADAMTS13, SERPINC1, MTHFR, F5, APOH
5thrombocytopenia30.7ADAMTS13, SERPINC1, CFH, F2, F3, CD79A
6myocardial infarction30.6ADAMTS13, SERPINC1, SULT1A3, CFH, F3, ANXA5
7hepatitis30.6F2, CD40LG, F10, F8
8endocarditis30.6F10
9stroke, ischemic30.6F2, F5
10purpura30.5ADAMTS13, SERPINC1, CD79A
11hemolytic anemia30.5ADAMTS13, CFH, F3, APOH
12thrombophilia30.4SERPINC1, F2, F3, ANXA5, PROCR, F10
13vascular disease30.4SERPINC1, SULT1A3, F3, MTHFR, F5, APOH
14autoimmune hemolytic anemia30.4CD79A, CD40LG
15glomerulonephritis30.4CFH, CD79A, CD40LG
16pancreatitis30.4SULT1A3
17pulmonary embolism30.3SERPINC1, F2, F3, F10, MTHFR, F5
18atherosclerosis30.3SERPINC1, SULT1A3, F3, CD40LG, ANXA5, ANXA2
19protein s deficiency30.3SERPINC1, F2, F3, MTHFR, F5, F8
20syphilis30.3CD79A, APOH
21coronary thrombosis30.3SERPINC1, F3
22leukemia30.3CD79A, CD40LG, ANXA5, ANXA2, F10, MTHFR
23thrombocytosis30.3SERPINC1, F2, F3, F10
24lung cancer30.3ANXA5
25retinal artery occlusion30.3APOH
26hepatitis c30.3F2, CD40LG, ANXA5, F8
27thyroiditis30.2CD79A
28acute myocardial infarction30.2ADAMTS13, SERPINC1, SULT1A3, F3, F10
29antithrombin iii deficiency30.2SERPINC1, F2, F10, MTHFR, F5, APOH
30hyperhomocysteinemia30.2SERPINC1, F2, MTHFR, F5, F8, APOH
31disseminated intravascular coagulation30.2ADAMTS13, SERPINC1, F2, F3, ANXA2, F10
32pneumonia30.2CD79A, ANXA5
33vasculitis30.2SULT1A3, F2, CD79A, CD40LG, APOH
34dementia30.2ANXA5
35neuropathy30.2CD79A
36cerebrovascular disease30.1MTHFR, APOH
37iga glomerulonephritis30.1CFH, CD79A, CD40LG, F10
38colon cancer30.1ANXA5, ANXA2, MTHFR
39pre-eclampsia30.0ADAMTS13, SERPINC1, F2, F3, ANXA5, F10
40thrombophlebitis30.0F8, APOH
41portal vein thrombosis30.0SERPINC1, F2, MTHFR, F5, F8
42hepatitis a30.0F2, F8
43eclampsia30.0SERPINC1, MTHFR
44patent foramen ovale30.0F5
45arthritis30.0SULT1A3, F10
46rheumatoid arthritis30.0CD79A, CD40LG, ANXA5, ANXA2, F10, MTHFR
47ischemia30.0ADAMTS13, F10
48branch retinal artery occlusion30.0F5
49pancreatic cancer30.0ANXA5, ANXA2
50intracranial thrombosis29.8SERPINC1, F3, MTHFR, F5, F8, APOH

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



Diseases related to antiphospholipid syndrome

Clinical Features for Antiphospholipid Syndrome

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Sources:
46OMIM
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Clinical features from OMIM:

107320

Drugs & Therapeutics for Antiphospholipid Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Antiphospholipid Syndrome

Drug clinical trials:

Search ClinicalTrials for Antiphospholipid Syndrome

Search NIH Clinical Center for Antiphospholipid Syndrome

Search CenterWatch for Antiphospholipid Syndrome

Genetic Tests for Antiphospholipid Syndrome

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22GTR
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Genetic tests related to Antiphospholipid Syndrome:

id Genetic test Affiliating Genes
1 Antiphospholipid Syndrome22

Anatomical Context for Antiphospholipid Syndrome

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32MalaCards
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MalaCards organs/tissues related to Antiphospholipid Syndrome:

32
Brain, Endothelial, Testes, Monocytes, Liver, Skin, Bone, T cells, Bone marrow, Placenta, Heart, Lung, Spinal cord, Pituitary, Breast, Adrenal gland, Kidney, Colon, Whole blood

Animal Models for Antiphospholipid Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Antiphospholipid Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537610.5ADAMTS13, APOH, F8, F5, MTHFR, F10
2MP:000538510.5ANXA2, CD40LG, F3, F2, CFH, F10
3MP:000539710.5F8, PROCR, ANXA2, CD40LG, CD79A, F3
4MP:001076810.4F10, MTHFR, F5, F8, APOH, PROCR
5MP:000538710.2F8, PROCR, ANXA5, CD40LG, CD79A, F3

Publications for Antiphospholipid Syndrome

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50PubMed
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Articles related to Antiphospholipid Syndrome:

(show top 50)    (show all 1363)
idTitleAuthorsYear
1
Extremely hypotrophic newborn of mother with systemic lupus erythematosus and antiphospholipid syndrome. (24356613)
2013
2
Cardiac manifestations other than valvulopathy in antiphospholipid syndrome: long-time echocardiography follow-up study. (24131635)
2013
3
Recurrent atraumatic metatarsal, rib and sacral insufficiency fractures in a woman with the antiphospholipid syndrome. (24172778)
2013
4
Seronegative antiphospholipid syndrome. (23502076)
2013
5
Number and sequence of preceding miscarriages and maternal age for the prediction of antiphospholipid syndrome in women with recurrent miscarriage. (23043688)
2013
6
Acute left main coronary artery thrombosis as the first manifestation of systemic lupus erythematosus and catastrophic antiphospholipid syndrome. (24176588)
2013
7
Rare association of cutaneous vasculitis, IgA nephropathy and antiphospholipid antibody syndrome with tuberculous lymphadenitis. (23917677)
2013
8
Dietetic issues in antiphospholipid syndrome. (22193229)
2013
9
Inhibition of thrombotic properties of persistent autoimmune anti-B2GPI antibodies in the mouse model of antiphospholipid syndrome. (24277078)
2013
10
Factor XI is a substrate for oxidoreductases: enhanced activation of reduced FXI and its role in antiphospholipid syndrome thrombosis. (22704541)
2012
11
Complex migraine with subtherapeutic INR in antiphospholipid syndrome. (22795816)
2012
12
I^a88-glycoprotein I, the major target in antiphospholipid syndrome, is a special human complement regulator. (21757614)
2011
13
Association of capillaroscopic microhaemorrhages with clinical and immunological antiphospholipid syndrome. (21385543)
2011
14
Recurrent thromboses and hemorrhagic complications in patients with antiphospholipid syndrome during therapy with warfarin plus aspirin]. (20597268)
2010
15
Multiple mononeuropathy secondary to thrombosis of the vasa nervorum in primary antiphospholipid syndrome. (20862832)
2010
16
Primary antiphospholipid antibody syndrome with optic neuritis. (20214010)
2009
17
Microparticles in deep venous thrombosis, antiphospholipid syndrome and Factor V Leiden. (19811220)
2009
18
Catastrophic antiphospholipid syndrome presenting with multiorgan failure and gangrenous lesions of the skin. (18388074)
2008
19
Reversible posterior leukoencephalopathy syndrome in catastrophic antiphospholipid syndrome. (17565204)
2007
20
Laboratory evaluation of the antiphospholipid syndrome. (17311864)
2007
21
Type III mixed cryoglobulinemia and antiphospholipid syndrome in a patient with partial DiGeorge syndrome. (17162366)
2006
22
Catastrophic antiphospholipid syndrome. (16855368)
2006
23
The role of therapeutic plasma exchange in the catastrophic antiphospholipid syndrome. (15951243)
2005
24
Disseminated intravascular coagulation in catastrophic antiphospholipid syndrome: clinical and haematological characteristics of 23 patients. (15897312)
2005
25
Autoantibodies against EPCR are found in antiphospholipid syndrome and are a risk factor for fetal death. (15150078)
2004
26
Patients with primary antiphospholipid syndrome and coronary microvascular dysfunction--a distinct clinical subset. (16370053)
2004
27
Beta2-glycoprotein I: antiphospholipid syndrome and T-cell reactivity. (15507264)
2004
28
Is HLA class II susceptibility to primary antiphospholipid syndrome different from susceptibility to secondary antiphospholipid syndrome? (14995006)
2004
29
Antiphospholipid syndrome updating]. (14572372)
2003
30
Reactive angioendotheliomatosis in the setting of antiphospholipid syndrome. (12752193)
2003
31
Stroke related to carotid artery dissection in a young patient with Takayasu arteritis, systemic lupus erythematosus and antiphospholipid antibody syndrome. (11810014)
2002
32
Anticardiolipin syndrome: antiphospholipid syndrome. (11358069)
2001
33
ARDS in catastrophic antiphospholipid syndrome. (11403273)
2001
34
Acute mesenterial artery occlusion--an unusual symptom of primary antiphospholipid antibody syndrome]. (10943103)
2000
35
Incidence of the factor V Leiden-mutation, coagulation inhibitor deficiency, and elevated antiphospholipid-antibodies in patients with preeclampsia or HELLP-syndrome. Hemolysis, elevated liver-enzymes, low platelets. (11187029)
2000
36
Which are the best biological markers of the antiphospholipid syndrome? (10968904)
2000
37
Acute interstitial pneumonia associated with antiphospholipid syndrome in a patient with systemic sclerosis. (11138352)
2000
38
Distribution of lupus anticoagulant and anticardiolipin antibody isotypes in a population with antiphospholipid syndrome. (9918246)
1999
39
Standardized measurement of major immunoglobulin class (IgG, IgA, and IgM) antibodies to beta2glycoprotein I in patients with antiphospholipid syndrome. (9773961)
1998
40
Antiphospholipid antibodies in patients with eosinophilia myalgia and toxic oil syndrome. (9002013)
1997
41
Evan's syndrome with antiphospholipid-protein antibodies]. (9273214)
1996
42
Antiphospholipid syndrome presenting as episodic limb ischaemia. (8984925)
1996
43
Benign intracranial hypertension: a non-thrombotic complication of the primary antiphospholipid syndrome? (8528233)
1995
44
Anticardiolipin antibodies and antiphospholipid syndrome in chronic discoid lupus erythematosus. (7586975)
1995
45
Clinical relevance of the antiphospholipid syndrome. Antiphospholipid antibodies in a mixed rheumatologic patient sample]. (7806118)
1994
46
Pulmonary thromboembolism in antiphospholipid syndrome]. (8519208)
1993
47
Anti-cardiolipin antibodies in HIV infection are true antiphospholipids not associated with antiphospholipid syndrome. (8217481)
1993
48
Induction of experimental primary and secondary antiphospholipid syndromes in naive mice. (1285883)
1992
49
Vascular disease in the antiphospholipid syndrome: a comparison with the patient population with atherosclerosis. (1728674)
1992
50
Antiphospholipid antibody syndrome: a case report and review of the literature. (1801188)
1991

Genetic Variations for Antiphospholipid Syndrome

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Expression for genes affiliated with Antiphospholipid Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Antiphospholipid Syndrome

Search GEO for disease gene expression data for Antiphospholipid Syndrome.

Pathways for genes affiliated with Antiphospholipid Syndrome

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29KEGG, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 52R&D Systems, 49PharmGKB
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Compounds for genes affiliated with Antiphospholipid Syndrome

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44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 2BitterDB
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Compounds related to Antiphospholipid Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 171)
idCompoundScoreTop Affiliating Genes
1homocysteine44 2411.9SULT1A3, F2, F3, APOH, F8, F5
2creatinine4410.9TNXA, APOH, ADAMTS13, SULT1A3, F2, F3
3warfarin44 49 11 2413.9APOH, CD79A, SERPINC1
4aspirin44 49 28 2413.9SERPINC1, SULT1A3, F3, CD79A, CD40LG, F10
5hirudin4410.9F3, F2, SERPINC1, TNXA, F8, F5
6kaolin4410.9F8, F5, F10, F3, F2, APOH
7cardiolipin44 1111.9CFH, F10, CRLS1
8fibrinogen4410.9CFH, F2, F3, CD79A, CD40LG, ANXA5
9heparin44 28 11 2413.9ADAMTS13, MTHFR, APOH, CD79A, CD40LG, ANXA5
10phosphatidylserine44 28 1112.9F2, F3, CD79A, CD40LG, ANXA5, ANXA2
11fondaparinux4410.9F5, F10, F3, F2, SERPINC1, TNXA
12danaparoid4410.9SERPINC1, TNXA, F5, F10, F3, F2
13ecarin4410.9F5, SERPINC1, F2, F3, F10
14bivalirudin44 1111.9TNXA, F2, F5, F10, F3, SERPINC1
15argatroban44 1111.9SERPINC1, F2, F3, F10, F5, TNXA
16ristocetin4410.9F5, F3, F8, F2, SERPINC1, ADAMTS13
17tirofiban44 1111.9F10, ANXA5, CD40LG, SERPINC1, F3, F2
18spectrozyme4410.9SERPINC1, F5, F3, F10, F2
19polysaccharide4410.9SERPINC1, F3, ANXA2, F10, CD40LG, CD79A
20phospholipid4410.9F3, ANXA5, ANXA2, PROCR, F10, F5
21ximelagatran44 1111.9F5, F10, F2, SERPINC1, F3
22gamma-carboxyglutamic acid4410.9F2, F3, PROCR, F10, F5, TNXA
23phosphatidylcholine4410.8F2, F10, ANXA2, ANXA5, F5, CD79A
24endotoxin4410.8ADAMTS13, F3, CD40LG, PROCR, F5, F8
25heparinoids4410.8SERPINC1, F2, F3, F5, F10
26abciximab44 1111.8ANXA5, F3, CD40LG, F2, SERPINC1, F10
27alanine4410.8F8, CFH, F2, CD79A, CD40LG, F3
28desmopressin44 59 28 1113.8F2, F5, ADAMTS13, SERPINC1, F3, F8
29clopidogrel49 44 11 2413.8F2, F3, CD40LG, F10, TNXA, SERPINC1
30coumarins4410.8F10, F3, APOH
31polyethylene glycol4410.8F2, CD40LG, F10, F5, F8, CD79A
32ppack4410.8F2, SERPINC1, CD40LG, F10, F3
33vegf4410.8APOH, SERPINC1, F3, PROCR, ANXA2, ANXA5
34protamine sulfate4410.8F5, SERPINC1, F3, F2, F10
35phosphatidylethanolamine44 1111.8F2, ANXA5, F8, F5, PROCR, APOH
36inogatran4410.8F2, F3, F5, SERPINC1
37protamine4410.8F10, F2, F3, TNXA, SERPINC1, F5
38dermatan sulfate4410.7F3, F5, TNXA, F2, F10, SERPINC1
39serine4410.7F8, F10, PROCR, ADAMTS13
40dextran sulfate4410.7F10, F5, APOH, CD40LG
41citrate4410.7F2, CD79A, F5, SERPINC1, F8, F3
42estrogen4410.7F8, SULT1A3, CD79A, APOH
43nadroparin44 1111.6SERPINC1, TNXA, F3, F10
44arginine4410.6SERPINC1, SULT1A3, ANXA2, CD79A, CD40LG, F10
45rivaroxaban44 1111.6SERPINC1, F2, F3, F10
46ancrod4410.5F5, F10, F2, SERPINC1
47fluorescein44 1111.5F10, CD40LG, F3, SERPINC1, F5
48organon4410.5F10, F3, F2, SERPINC1
49tinzaparin44 1111.4SERPINC1, F3, F10, TNXA
50coumarin44 2 49 2413.2F5, F10, F3, SERPINC1, F2

GO Terms for genes affiliated with Antiphospholipid Syndrome

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16Gene Ontology
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Cellular components related to Antiphospholipid Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00989710.5CD79A, CD40LG, ANXA5, HLA-DRB4
2extracellular spaceGO:00561510.4ADAMTS13, APOH, F8, F5, CD40LG, F3
3intrinsic to external side of plasma membraneGO:03123310.2F10, F3

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00759610.7SERPINC1, F8, F5, F10, PROCR, ANXA5
2blood coagulation, intrinsic pathwayGO:00759710.7F2, F10, F8, APOH
3platelet activationGO:03016810.6F8, F5, CD40LG, F2, ADAMTS13
4negative regulation of coagulationGO:05081910.6ANXA5, PROCR
5blood coagulation, extrinsic pathwayGO:00759810.5F3, F10
6negative regulation of fibrinolysisGO:05191810.5APOH, F2
7B cell proliferationGO:04210010.5CD79A, CD40LG
8peptidyl-glutamic acid carboxylationGO:01718710.4F2, F10
9positive regulation of blood coagulationGO:03019410.2F2, APOH

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

idNameGO IDScoreTop Affiliating Genes
1phospholipase inhibitor activityGO:00485910.5ANXA5, ANXA2

Products for genes affiliated with Antiphospholipid Syndrome

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Sources for Antiphospholipid 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet