QPD
MCID: QBC001
MIFTS: 48

Quebec Platelet Disorder (QPD) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Quebec Platelet Disorder

Aliases & Descriptions for Quebec Platelet Disorder:

Name: Quebec Platelet Disorder 54 12 50 24 56 66 29 13 52 42 69
Factor V Quebec 12 50 24 56 66
Bdplt5 12 24 66
Qpd 50 24 66
Platelet-Type Bleeding Disorder 5 12 24
Bleeding Disorder Platelet-Type 5 66

Characteristics:

Orphanet epidemiological data:

56
quebec platelet disorder
Inheritance: Autosomal dominant;

HPO:

32
quebec platelet disorder:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 601709
Disease Ontology 12 DOID:0111050
ICD10 33 D69.1
Orphanet 56 ORPHA220436
MESH via Orphanet 43 C536260
UMLS via Orphanet 70 C1866423
ICD10 via Orphanet 34 D69.1
MedGen 40 C1866423
UMLS 69 C1866423

Summaries for Quebec Platelet Disorder

OMIM : 54 Quebec platelet disorder is an autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis.... (601709) more...

MalaCards based summary : Quebec Platelet Disorder, also known as factor v quebec, is related to factor v deficiency and bernard-soulier syndrome, type c, and has symptoms including thrombocytopenia, epistaxis and bruising susceptibility. An important gene associated with Quebec Platelet Disorder is PLAU (Plasminogen Activator, Urokinase), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Formation of Fibrin Clot (Clotting Cascade). The drugs Aspirin and Ticlopidine have been mentioned in the context of this disorder. Related phenotypes are cardiovascular system and liver/biliary system

Disease Ontology : 12 An inherited blood coagulation disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22.

UniProtKB/Swiss-Prot : 66 Quebec platelet disorder: An autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins.

Wikipedia : 71 Quebec Platelet Disorder (QPD) is a rare, autosomal dominant bleeding disorder described in a family... more...

Related Diseases for Quebec Platelet Disorder

Diseases related to Quebec Platelet Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
id Related Disease Score Top Affiliating Genes
1 factor v deficiency 11.2
2 bernard-soulier syndrome, type c 10.9
3 glutathionuria 10.2 PLAU SERPINE1
4 chronic fatigue syndrome 10.2 SERPINE1 VCL
5 sezary's disease 10.2 SERPINE1 VCL
6 perrault syndrome 10.1 SELP SERPINE1
7 hereditary endotheliopathy, retinopathy, nephropathy, and stroke 10.1 F10 SELP
8 loiasis 10.1 PLAU SERPINE1
9 xerophthalmia 10.1 SELP SERPINE1
10 craniopharyngioma 10.1 CD63 SERPINE1
11 absence of innominate vein 10.1 F5 SERPINE1
12 stt3a-cdg and stt3b-cdg 10.1 F5 SERPINE1
13 aminoaciduria 10.1 F5 SERPINE1
14 lubinsky syndrome 10.1 F5 SERPINE1
15 thyroid cancer, anaplastic 10.1 ADAMTSL1 SELP SERPINE1
16 lymphocytic colitis 10.0 F5 SERPINE1
17 bullous skin disease 10.0 F5 SERPINE1
18 central congenital hypothyroidism 10.0 F5 SERPINE1
19 osteogenesis imperfecta, type vii 10.0 SELP SPARC
20 neuroaxonal dystrophy 10.0 F5 SERPINE1
21 subclavian artery aneurysm 10.0 F10 SELP SERPINE1
22 inherited blood coagulation disease 10.0 F5 SERPINE1
23 lynch syndrome 10.0 F5 SERPINE1
24 czech dysplasia 10.0 F5 SERPINE1
25 mental retardation hypotonia skin hyperpigmentation 10.0 F5 SERPINE1
26 cryptosporidiosis 10.0 F5 SELP
27 acrodysplasia scoliosis 10.0 F10 F5
28 myotonic dystrophy 9.9 F10 F5
29 dysgammaglobulinemia 9.9 F5 SELP SERPINE1
30 cervix small cell carcinoma 9.9 F5 SELP SERPINE1
31 budd-chiari syndrome 9.9 F5 SELP SERPINE1
32 pregnancy loss, recurrent 2 9.9 F10 F5
33 pregnancy loss, recurrent 1 9.9 F10 F5 SERPINE1
34 immunodeficiency, common variable, 6 9.9 F10 F5 SERPINE1
35 leukocyte disease 9.9 F10 F5 SERPINE1
36 invasive pneumococcal disease, recurrent isolated, 1 9.8 F10 F5
37 sertoli-leydig cell tumor 9.8 F10 F5 SELP
38 pericarditis 9.8 F5 SELP SERPINE1
39 otopalatodigital syndrome, type i 9.7 F10 F5
40 bone development disease 9.7 F10 F5 SELP SERPINE1
41 myocardial infarction 9.6 F10 F5 SELP SERPINE1
42 microphthalmia, isolated, with coloboma 10 8.6 ADAMTSL1 CD63 F10 F5 MMRN1 PLAU

Graphical network of the top 20 diseases related to Quebec Platelet Disorder:



Diseases related to Quebec Platelet Disorder

Symptoms & Phenotypes for Quebec Platelet Disorder

Symptoms by clinical synopsis from OMIM:

601709

Clinical features from OMIM:

601709

Human phenotypes related to Quebec Platelet Disorder:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 epistaxis 32 HP:0000421
3 bruising susceptibility 32 HP:0000978
4 menorrhagia 32 HP:0000132
5 joint hemorrhage 32 HP:0005261
6 impaired epinephrine-induced platelet aggregation 32 HP:0008148

MGI Mouse Phenotypes related to Quebec Platelet Disorder:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 F10 F5 PLAU RECK SELP SERPINE1
2 liver/biliary system MP:0005370 9.02 F5 PLAU RECK SELP SERPINE1

Drugs & Therapeutics for Quebec Platelet Disorder

Drugs for Quebec Platelet Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 326)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-78-2 2244
2
Ticlopidine Approved Phase 4,Phase 3,Phase 2,Phase 1 55142-85-3 5472
3
Esomeprazole Approved, Investigational Phase 4,Phase 3 161796-78-7, 119141-88-7 4594 9579578
4
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
5
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 3 73590-58-6 4594
6
Pantoprazole Approved Phase 4,Phase 3 102625-70-7 4679
7
Ranitidine Approved Phase 4 66357-59-3, 66357-35-5 3001055
8
Abciximab Approved Phase 4,Phase 3 143653-53-6
9
Didanosine Approved Phase 4 69655-05-6 50599
10
Indinavir Approved Phase 4 150378-17-9 5362440
11
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
12
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
13
Zalcitabine Approved Phase 4 7481-89-2 24066
14
Zidovudine Approved Phase 4 30516-87-1 35370
15
Epoprostenol Approved Phase 4,Phase 3 61849-14-7, 35121-78-9 5280427 5282411
16
Dipyridamole Approved Phase 4 58-32-2 3108
17
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
18
Rivaroxaban Approved Phase 4,Phase 3,Phase 2 366789-02-8
19
Apixaban Approved Phase 4,Phase 3 503612-47-3 10182969
20
Crizotinib Approved Phase 4 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
21
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 120202-66-6, 113665-84-2 60606
22
Menadione Approved, Nutraceutical Phase 4,Phase 3 58-27-5 4055
23
Phytonadione Approved, Nutraceutical Phase 4,Phase 3 84-80-0 4812 5284607
24 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
25 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
26 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1
28 Antipyretics Phase 4,Phase 3,Phase 2,Phase 1
29 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
30 Chelating Agents Phase 4
31 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
32 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
33 Fibrinolytic Agents Phase 4,Phase 3,Phase 2,Phase 1
34 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
37 Purinergic P2 Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1
38 Purinergic P2Y Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1
39 Antacids Phase 4,Phase 3
40 Anticholesteremic Agents Phase 4,Phase 2,Phase 3
41 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
42 Anti-Ulcer Agents Phase 4,Phase 3
43 Atorvastatin Calcium Phase 4,Phase 3 134523-03-8
44
Bismuth Phase 4 7440-69-9 16682734 105143
45 Bismuth tripotassium dicitrate Phase 4
46 Calcium, Dietary Phase 4,Phase 3,Phase 2
47 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2
48 Histamine Antagonists Phase 4
49 Histamine H2 Antagonists Phase 4
50
Histamine Phosphate Phase 4 51-74-1 65513

Interventional clinical trials:

(show top 50) (show all 156)
id Name Status NCT ID Phase
1 Clopidogrel For the Prevention of New Onset Migraine Headache Following Transcatheter Closure of Atrial Septal Defects Unknown status NCT00799045 Phase 4
2 Evaluation of the Influence of Statins and Proton Pump Inhibitors on Clopidogrel Antiplatelet Effects Completed NCT00930670 Phase 4
3 H2 Haplotype and CYP3As Polymorphisms and the Antiplatelet Response to Clopidogrel Completed NCT00433784 Phase 4
4 EArly Discharge After Transradial Stenting of CoronarY Arteries: The EASY Study Completed NCT00169819 Phase 4
5 Aspirin Versus Aspirin + ClopidogRel Following Transcatheter Aortic Valve Implantation: the ARTE Trial Completed NCT01559298 Phase 4
6 Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia Completed NCT01352234 Phase 4
7 A Randomized Trial of Early Discharge After Trans-radial Stenting of Coronary Arteries in Acute MI Completed NCT00440778 Phase 4
8 A Randomized Trial of Early Discharge After Trans-radial Stenting of Coronary Arteries in Acute MI and Rescue-PCI Completed NCT00440895 Phase 4
9 Effect of Indinavir Plus Two Other Anti-HIV Drugs on Blood Clotting in HIV-Positive Males With Hemophilia Completed NCT00002386 Phase 4
10 Study of a New Thermo Stable Formulation of Epoprostenol Sodium to Treat Pulmonary Arterial Hypertension (PAH) Completed NCT01462565 Phase 4
11 Phase 4 Fluticasone Furoate Nasal Spray (VERAMYST) Long Term Pediatric Growth Study. Completed NCT00570492 Phase 4
12 PRoFESS - Prevention Regimen For Effectively Avoiding Second Strokes Completed NCT00153062 Phase 4
13 Optimal Anticoagulation for Higher Risk Patients Post-Catheter Ablation for Atrial Fibrillation Trial Recruiting NCT02168829 Phase 4
14 Apixaban for the Reduction of Thrombo-Embolism in Patients With Device-Detected Sub-Clinical Atrial Fibrillation Recruiting NCT01938248 Phase 4
15 A Study of Apixaban in Patients With Atrial Fibrillation, Not Caused by a Heart Valve Problem, Who Are at Risk for Thrombosis (Blood Clots) Due to Having Had a Recent Coronary Event, Such as a Heart Attack or a Procedure to Open the Vessels of the Heart Recruiting NCT02415400 Phase 4
16 Aspirin Versus Aspirin+Clopidogrel as Antithrombotic Treatment Following TAVI Active, not recruiting NCT02640794 Phase 4
17 Study to Evaluate Resistance Mechanisms and Real-world Pharmacoeconomics of Crizotinib in NSCLC Patients Active, not recruiting NCT02041468 Phase 4
18 INC424 for Patients With Myelofibrosis, Post Polycythemia Myelofibrosis or Post-essential Thrombocythemia Myelofibrosis No longer available NCT01493414 Phase 4
19 Effect of Different Dosing Regimens of Clopidogrel Before Elective Percutaneous Coronary Intervention (PCI) on Platelet Function Completed NCT00693069 Phase 3
20 A Study of Eltrombopag or Placebo in Combination With Azacitidine in Subjects With International Prognostic Scoring System (IPSS) Intermediate-1, Intermediate-2 or High-risk Myelodysplastic Syndromes (MDS) Completed NCT02158936 Phase 3
21 Safety and Efficacy Study of Romiplostim to Treat Immune Thrombocytopenia (ITP) in Pediatric Patients Completed NCT01444417 Phase 3
22 RAISE: Randomized Placebo-Controlled Idiopathic Thrombocytopenic Purpura (ITP) Study With Eltrombopag Completed NCT00370331 Phase 3
23 A Study Evaluating the Safety and Efficacy of Long-term Dosing of Romiplostim in Thrombocytopenic Pediatric Subjects With Immune (Idiopathic) Thrombocytopenia Purpura Completed NCT01071954 Phase 3
24 EXTEND (Eltrombopag Extended Dosing Study) Completed NCT00351468 Phase 3
25 COntrolled MyeloFibrosis Study With ORal JAK Inhibitor Treatment: The COMFORT-I Trial Completed NCT00952289 Phase 3
26 Eltrombopag To Initiate And Maintain Interferon Antiviral Treatment To Subjects With Hepatitis C Related Liver Disease Completed NCT00516321 Phase 3
27 Eltrombopag To Initiate And Maintain Interferon Antiviral Treatment To Benefit Subjects With Hepatitis C Liver Disease Completed NCT00529568 Phase 3
28 A Comparison of Ticagrelor (AZD6140) and Clopidogrel in Patients With Acute Coronary Syndrome Completed NCT00391872 Phase 3
29 Secondary Prevention of Small Subcortical Strokes Trial Completed NCT00059306 Phase 3
30 A Study Comparing Cardiovascular Effects of Ticagrelor and Clopidogrel in Patients With Peripheral Artery Disease Completed NCT01732822 Phase 3
31 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3
32 Abatacept and Infliximab in Combination With Methotrexate in Subjects With Rheumatoid Arthritis Completed NCT00095147 Phase 3
33 Defibrotide for the Treatment of Severe Hepatic Veno-Occlusive Disease in Hematopoetic Stem Cell Transplant Patients Completed NCT00358501 Phase 3
34 Tiotropium / Respimat One-Year Study Completed NCT00168831 Phase 3
35 Combination Chemotherapy in Treating Children With Progressive Brain Tumors Completed NCT00002944 Phase 3
36 Efficacy and Safety of Eplivanserin Treatment for Sleep Maintenance Insomnia Followed by Optional Extension up to 1 Year Completed NCT00253903 Phase 3
37 Warfarin and Antiplatelet Therapy in Chronic Heart Failure Completed NCT00007683 Phase 3
38 Tiotropium / Respimat One-Year Study Completed NCT00168844 Phase 3
39 A Study of Intravenous Mircera for the Treatment of Anemia in Dialysis Patients Completed NCT00077610 Phase 3
40 A Comparison of Prasugrel at PCI or Time of Diagnosis of Non-ST Elevation Myocardial Infarction Completed NCT01015287 Phase 3
41 Combination Chemotherapy in Treating Children With Newly Diagnosed Acute Lymphoblastic Leukemia Completed NCT00005596 Phase 3
42 Warfarin Versus Aspirin in Reduced Cardiac Ejection Fraction (WARCEF) Trial Completed NCT00041938 Phase 3
43 Clinical Trial for Non-responders Who Previously Participated in Eltrombopag Studies TPL 103922 or TPL 108390 Completed NCT00996216 Phase 3
44 A Trial of ABI-007 Versus Dacarbazine in Previously Untreated Patients With Metastatic Malignant Melanoma Completed NCT00864253 Phase 3
45 Rollover Trial Safety and Tolerability of Combination Tipranavir and Ritonavir Use in HIV 1 Infected Subjects Completed NCT00146328 Phase 2, Phase 3
46 Biomarker Sub Study of the Compression Stockings to Prevent the Post-Thrombotic Syndrome (SOX) Trial Completed NCT01615705 Phase 3
47 Study of Esomeprazole 20 mg or 40 mg vs Placebo Effectiveness on the Occurrence of Peptic Ulcers in Subjects on Low Dose Acetylsalicylic Acid (LDA) Completed NCT00441727 Phase 3
48 Monovalent H5N1 Vaccine GSK1557484A in Children 6 Months to < 18 Years of Age Completed NCT01310413 Phase 3
49 COX-2 Inhibitor Study In Patients With Rheumatoid Arthritis Completed NCT00113308 Phase 3
50 Albumin-bound Paclitaxel (ABI-007) for Patients With Advanced Non-Small Cell Lung Cancer Completed NCT00540514 Phase 3

Search NIH Clinical Center for Quebec Platelet Disorder

Cochrane evidence based reviews: quebec platelet disorder

Genetic Tests for Quebec Platelet Disorder

Genetic tests related to Quebec Platelet Disorder:

id Genetic test Affiliating Genes
1 Quebec Platelet Disorder 29 24 PLAU

Anatomical Context for Quebec Platelet Disorder

Publications for Quebec Platelet Disorder

Articles related to Quebec Platelet Disorder:

(show all 16)
id Title Authors Year
1
The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes. ( 28301587 )
2017
2
Simultaneous measurement of adenosine triphosphate release and aggregation potentiates human platelet aggregation responses for some subjects, including persons with Quebec platelet disorder. ( 22234747 )
2012
3
Quebec platelet disorder. ( 21495923 )
2011
4
Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. ( 22102275 )
2011
5
Quebec platelet disorder. ( 20688024 )
2010
6
Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. ( 20007542 )
2010
7
Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. ( 18988861 )
2009
8
Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation. ( 19029443 )
2009
9
Evaluation of urokinase plasminogen activator in urine from individuals with Quebec platelet disorder. ( 18600101 )
2008
10
Quebec platelet disorder: features, pathogenesis and treatment. ( 18277131 )
2008
11
Insights into abnormal hemostasis in the Quebec platelet disorder from analyses of clot lysis. ( 16689763 )
2006
12
Bleeding risks associated with inheritance of the Quebec platelet disorder. ( 15026313 )
2004
13
Intracellular activation of the fibrinolytic cascade in the Quebec Platelet Disorder. ( 12888877 )
2003
14
Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator. ( 11435291 )
2001
15
Studies of a second family with the Quebec platelet disorder: evidence that the degradation of the alpha-granule membrane and its soluble contents are not secondary to a defect in targeting proteins to alpha-granules. ( 9028947 )
1997
16
Fibrinogen degradation products in patients with the Quebec platelet disorder. ( 9163623 )
1997

Variations for Quebec Platelet Disorder

ClinVar genetic disease variations for Quebec Platelet Disorder:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PLAU NC_000010.11: g.73899258_73977195dup77938 duplication Pathogenic GRCh37 Chromosome 10, 75659016: 75736953

Copy number variations for Quebec Platelet Disorder from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 45962 10 75670862 75677259 Mutation PLAU Quebec platelet disorder

Expression for Quebec Platelet Disorder

Search GEO for disease gene expression data for Quebec Platelet Disorder.

Pathways for Quebec Platelet Disorder

GO Terms for Quebec Platelet Disorder

Cellular components related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.73 CD63 F5 PLAU SELP SERPINE1 SPARC
2 extracellular region GO:0005576 9.61 CD63 F10 F5 MMRN1 PLAU RECK
3 extracellular vesicle GO:1903561 9.43 F5 VCL
4 platelet alpha granule membrane GO:0031092 9.4 SELP SPARC
5 platelet alpha granule GO:0031091 9.32 F5 SPARC
6 platelet dense granule membrane GO:0031088 9.16 CD63 SELP
7 platelet alpha granule lumen GO:0031093 8.92 F5 MMRN1 SERPINE1 SPARC
8 plasma membrane GO:0005886 10.02 CD63 F10 F5 PLAU RECK SELP

Biological processes related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.73 ADAMTSL1 F10 F5 PLAU
2 extracellular matrix organization GO:0030198 9.58 RECK SERPINE1 SPARC
3 negative regulation of cell migration GO:0030336 9.5 RECK SERPINE1 VCL
4 fibrinolysis GO:0042730 9.37 PLAU SERPINE1
5 hemostasis GO:0007599 9.33 F10 F5 PLAU
6 regulation of receptor activity GO:0010469 9.26 PLAU SERPINE1
7 blood coagulation GO:0007596 9.26 F10 F5 MMRN1 PLAU
8 platelet degranulation GO:0002576 9.17 CD63 F5 MMRN1 SELP SERPINE1 SPARC

Molecular functions related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.8 F10 F5 PLAU

Sources for Quebec Platelet Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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