MCID: THR035
MIFTS: 45

Thrombasthenia

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Thrombasthenia

MalaCards integrated aliases for Thrombasthenia:

Name: Thrombasthenia 53 73

Classifications:



Summaries for Thrombasthenia

MalaCards based summary : Thrombasthenia is related to bleeding disorder, platelet-type, 16 and glanzmann thrombasthenia. An important gene associated with Thrombasthenia is ITGA2B (Integrin Subunit Alpha 2b), and among its related pathways/superpathways are Integrin Pathway and PI3K-Akt signaling pathway. The drugs Vidarabine and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and whole blood, and related phenotypes are cardiovascular system and cellular

Related Diseases for Thrombasthenia

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

(show top 50) (show all 158)
# Related Disease Score Top Affiliating Genes
1 bleeding disorder, platelet-type, 16 33.2 ITGA2B ITGB3
2 glanzmann thrombasthenia 31.2 F2 F3 GP1BA GP9 ITGA2 ITGA2B
3 thrombocytopenia due to platelet alloimmunization 30.3 ITGA2 ITGA2B SELP
4 prothrombin deficiency, congenital 29.9 F2 F5
5 prothrombin deficiency 29.5 F2 F3 F5
6 bernard-soulier syndrome 29.4 F2 GP1BA GP9 ITGA2 ITGA2B ITGB3
7 thrombophilia due to thrombin defect 29.3 F2 F3 F5 MTHFR
8 purpura 29.0 F2 F3 GP1BA ITGA2B ITGB3
9 thrombocytopenia 28.8 F3 GP1BA GP9 ITGA2 ITGA2B ITGB3
10 von willebrand's disease 28.6 F2 F3 F5 GP1BA SELP
11 blood platelet disease 28.1 F2 F3 GP1BA GP9 ITGA2B ITGB3
12 thrombosis 27.9 F2 F3 F5 GP1BA MTHFR SELP
13 bleeding disorder, platelet-type, 17 11.7
14 schlegelberger grote syndrome 11.2
15 congenital disorder of glycosylation, type iic 10.9
16 leukocyte adhesion deficiency, type i 10.9
17 leukocyte adhesion deficiency, type iii 10.9
18 autoimmune disease of blood 10.7 ITGA2 ITGA2B ITGB3
19 mesenteric vascular occlusion 10.7 F2 MTHFR
20 chancroid 10.6 CD36 VTN
21 blood protein disease 10.6 F2 MTHFR
22 buerger disease 10.6 F2 ITGA2 MTHFR
23 cerebral falx meningioma 10.5 F2 F3
24 paracetamol poisoning 10.5 F2 F5
25 intestinal impaction 10.5 F2 F3
26 ischemic neuropathy 10.5 F2 MTHFR
27 fournier gangrene 10.5 F2 F3
28 inferior vena cava interruption 10.4 F5 MTHFR
29 sticky platelet syndrome 10.4 F5 ITGB3
30 leech infestation 10.4 F2 F3
31 hemorrhagic fever 10.4 F2 F3 ITGB3
32 amaurosis fugax 10.4 F5 MTHFR
33 type i 10.4
34 giant hemangioma 10.4 F2 F3
35 heparin-induced thrombocytopenia 10.3 F3 SELP
36 factor vii deficiency 10.3 EGF F2 F3
37 hemophilia b 10.3 EGF F2 F3
38 autosomal dominant macrothrombocytopenia 10.3 GP1BA ITGA2B ITGB3
39 marantic endocarditis 10.3 F2 F3 MTHFR
40 hemoglobin e disease 10.3 F2 F5
41 hepatic infarction 10.3 F2 F3 MTHFR
42 carotid artery thrombosis 10.3 F3 ITGA2B SELP
43 immune system disease 10.3 F2 F3 ITGA2B
44 branch retinal artery occlusion 10.3 F2 F3 MTHFR
45 hepatic vascular disease 10.3 F2 F3 MTHFR
46 intermediate coronary syndrome 10.3 F3 ITGA2B SELP
47 spinal cord infarction 10.3 F2 F5 MTHFR
48 livedoid vasculopathy 10.3 F2 F5 MTHFR
49 cryptogenic cirrhosis 10.2 F2 F5 MTHFR
50 porencephaly 10.2 F2 F5 MTHFR

Graphical network of the top 20 diseases related to Thrombasthenia:



Diseases related to Thrombasthenia

Symptoms & Phenotypes for Thrombasthenia

MGI Mouse Phenotypes related to Thrombasthenia:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.24 PTK2 SELP THRA CD36 F2 F3
2 cellular MP:0005384 10.22 CD36 F3 GP1BA HPSE ITGA2 ITGA2B
3 hematopoietic system MP:0005397 10.22 CD36 F2 F3 GP1BA GP9 HPSE
4 homeostasis/metabolism MP:0005376 10.18 CD36 F2 F3 F5 GP1BA ITGA2
5 growth/size/body region MP:0005378 10.17 CD36 EGF F2 F3 F5 ITGB3
6 immune system MP:0005387 10.02 CD36 EGF F2 F3 HPSE ITGA2B
7 digestive/alimentary MP:0005381 10 CD36 EGF F2 ITGA2B ITGB3 PTK2
8 integument MP:0010771 10 F5 HPSE ITGA2 ITGB3 MTHFR PTK2
9 liver/biliary system MP:0005370 9.7 F5 ITGB3 PSMG1 PTK2 SELP THRA
10 nervous system MP:0003631 9.65 CD36 F2 F3 F5 ITGB3 MTHFR
11 normal MP:0002873 9.23 ITGB3 PSMG1 PTK2 VTN EGF F2

Drugs & Therapeutics for Thrombasthenia

Drugs for Thrombasthenia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
2
Fludarabine Approved Phase 2,Not Applicable 21679-14-1, 75607-67-9 30751
3
Cyclophosphamide Approved, Investigational Phase 2,Not Applicable 50-18-0, 6055-19-2 2907
4 Alkylating Agents Phase 2
5 Vidarabine Phosphate Phase 2
6 Immunosuppressive Agents Phase 2,Phase 1
7 Anti-Infective Agents Phase 2
8 Antirheumatic Agents Phase 2,Phase 1
9 Antimetabolites Phase 2
10 Antiviral Agents Phase 2
11 Antimetabolites, Antineoplastic Phase 2
12 Antineoplastic Agents, Alkylating Phase 2
13
Abatacept Approved Phase 1 332348-12-6 10237
14
Mycophenolic acid Approved Phase 1 24280-93-1 446541
15
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
16 Cyclosporins Phase 1
17
alemtuzumab Approved, Investigational Not Applicable 216503-57-0
18
Iron Approved Not Applicable 7439-89-6 23925
19
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
20 Hemostatics
21 Antifibrinolytic Agents
22 Antilymphocyte Serum Not Applicable
23 Dermatologic Agents Not Applicable

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
2 Bioequivalence of NovoSeven® and a NovoSeven® Formulation Stable at Room Temperature in Healthy Male Subjects Completed NCT01561417 Phase 1 activated recombinant human factor VII;activated recombinant human factor VII
3 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
4 Evaluation of Menses in Congenital Bleeding Disorders Unknown status NCT01261936
5 Observational Registry of the Treatment of Glanzmann's Thrombasthenia Completed NCT01476423 activated recombinant human factor VII
6 A Study to Evaluate Safety and Efficacy of NovoSeven® in Patients With Glanzmann's Thrombasthenia in Japan Completed NCT01876745 eptacog alfa (activated)
7 Observational Study on the Efficacy and Safety of NovoSeven® During "Real-life" Usage in Germany Completed NCT00697320 eptacog alfa (activated)
8 The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders. Recruiting NCT00230165
9 Evaluation of a New Approach of the Diagnosis of Constitutional Functional Disorders of Platelets Recruiting NCT01957345 Not Applicable
10 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Not Applicable Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
11 Prospective, Non-interventional Study to Evaluate Immunogenicity of AryoSeven Enrolling by invitation NCT03372993
12 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Not Applicable Alefacept

Search NIH Clinical Center for Thrombasthenia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Thrombasthenia

Anatomical Context for Thrombasthenia

MalaCards organs/tissues related to Thrombasthenia:

41
Bone, Bone Marrow, Whole Blood, Monocytes, Testes, Myeloid, Endothelial

Publications for Thrombasthenia

Articles related to Thrombasthenia:

(show top 50) (show all 591)
# Title Authors Year
1
Acquired Antibodies to I+IIbI^3 in Glanzmann Thrombasthenia: From Transfusion and Pregnancy to Bone Marrow Transplants and Beyond. ( 29884513 )
2018
2
Levonorgestrel-releasing intrauterine system for treatment of heavy menstrual bleeding in adolescents with Glanzmann's Thrombasthenia: illustrated case series. ( 29486748 )
2018
3
In silico analysis of structural modifications in and around the integrin I+IIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia. ( 29385657 )
2018
4
Study of the Relationship between HPA-1 and HPA-5 Gene Polymorphisms and Refractory to Platelet Therapy and Recombinant Factor VII in Glanzmann Thrombasthenia Patients in Southeast of Iran. ( 29951177 )
2018
5
Anti-I+<sub>IIb</sub> I^<sub>3</sub> immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations. ( 29611179 )
2018
6
Clinical and molecular insights into Glanzmann's thrombasthenia in China. ( 29675921 )
2018
7
Alloimmunization in Congenital Deficiencies of Platelet Surface Glycoproteins: Focus on Glanzmann's Thrombasthenia and Bernard-Soulier's Syndrome. ( 29879742 )
2018
8
ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia. ( 29125375 )
2018
9
A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations. ( 29439184 )
2018
10
Management of Abdominoperineal Excision of the Rectum in a Patient with Glanzmann Thrombasthenia. ( 29945125 )
2018
11
Perioperative management of a patient with Glanzmann thrombasthenia undergoing a coronary artery bypass graft surgery: a case report. ( 29474205 )
2018
12
Correction of coagulopathy in thrombocytopenia and Glanzmann thrombasthenia models by fibrinogen and factor XIII as assessed by thromboelastometry. ( 29805054 )
2018
13
Identification of Clinicopathological Spectrum, Platelet Glycoprotein IIb/IIIa complex and Platelet Antibodies in Egyptian Children with Glanzmann's Thrombasthenia. ( 28161816 )
2017
14
Molecular characterization of Glanzmann's thrombasthenia in Iran: identification of three novel mutations. ( 29084015 )
2017
15
A rare case of bleeding disorder: Glanzmann's thrombasthenia. ( 29063905 )
2017
16
Epistaxis as a Common Presenting Symptom of Glanzmann's Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples. ( 28299211 )
2017
17
Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia. ( 29152293 )
2017
18
Perioperative management of a patient with glanzmann's thrombasthenia for mitral valve repair under cardiopulmonary bypass. ( 28994690 )
2017
19
Novel Mutations in Thai Patients with Glanzmann Thrombasthenia. ( 28888044 )
2017
20
Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses? ( 28395882 )
2017
21
Anticoagulant therapy in patients with Glanzmann's Thrombasthenia: Is it possible? ( 28940852 )
2017
22
Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B. ( 28078347 )
2017
23
Thalidomide for the Treatment of Gastrointestinal Bleeding Due to Angiodysplasia in a Patient with Glanzmann's Thrombasthenia. ( 28670433 )
2017
24
Oral Surgery in Patients With Glanzmann Thrombasthenia: A Case Series. ( 28341450 )
2017
25
Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms. ( 28948953 )
2017
26
Reversal of Glanzmann thrombasthenia platelet phenotype after imatinib treatment in a pediatric chronic myeloid leukemia patient. ( 29185819 )
2017
27
Independent adjudicator assessments of platelet refractoriness and rFVIIa efficacy in bleeding episodes and surgeries from the multinational Glanzmann's thrombasthenia registry. ( 28370369 )
2017
28
Glanzmann thrombasthenia platelets compete with transfused platelets, reducing the haemostatic impact of platelet transfusions. ( 28466602 )
2017
29
Recognition and management of platelet-refractory bleeding in patients with Glanzmann's thrombasthenia and other severe platelet function disorders. ( 28435309 )
2017
30
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression. ( 28232155 )
2017
31
Emergency craniotomy in Glanzmann thrombasthenia: Anesthetic management and brief review of literature. ( 28096593 )
2016
32
Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia. ( 26452979 )
2016
33
Immunisation against I+IIbI^3 and I+vI^3 in a type 1 variant of Glanzmann's thrombasthenia caused by a missense mutation Gly540Asp on I^3. ( 27098940 )
2016
34
Identification and Characterization of Glanzmann Thrombasthenia in 2 Closely Related Mixed-breed Dogs. ( 26764135 )
2016
35
Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent. ( 27469266 )
2016
36
Perioperative ROTEM and ROTEMplatelet monitoring in a case of Glanzmann's thrombasthenia. ( 26825624 )
2016
37
Glanzmann Thrombasthenia: A Clinicopathological Profile. ( 27539755 )
2016
38
Glanzmann thrombasthenia in a child manifesting after dengue infection. ( 28050106 )
2016
39
New Insights Into the Treatment of Glanzmann Thrombasthenia. ( 26968829 )
2016
40
Is there a role for antiangiogenic therapy, bevacizumab, in the treatment of recurrent digestive bleeding due to angiodysplasia in Glanzmann's thrombasthenia? ( 27352634 )
2016
41
Endometriosis and GlanzmannA9s thrombasthenia. ( 27655515 )
2016
42
Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy. ( 27696190 )
2016
43
Efficacy of tranexamic acid for the prevention of bleeding in patients with von Willebrand disease and Glanzmann thrombasthenia: a controlled, before and after trial. ( 27478149 )
2016
44
Surgical procedures in patients with Glanzmann's thrombasthenia: case series and literature review. ( 27273143 )
2016
45
Simultaneous occurrence of intussusception and duodenal haematoma in a patient with Glanzmann's thrombasthenia. ( 28051053 )
2016
46
Total Extraction as a Treatment for Anaemia in a Patient of Glanzmann's Thrombasthenia with Chronic Gingival Bleed: Case Report. ( 26894187 )
2016
47
No genetic abnormalities identified in I+2IIb and I^3: phenotype overcomes genotype in Glanzmann thrombasthenia. ( 27808476 )
2016
48
Glanzmann thrombasthenia in pregnancy: Optimising maternal and fetal outcomes. ( 27829878 )
2016
49
Expanding the Mutation Spectrum Affecting I+IIbI^3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. ( 25728920 )
2015
50
The Use of Ankaferd Blood Stopper in a Child With Glanzmann Thrombasthenia With Gingival Bleeding. ( 26207779 )
2015

Variations for Thrombasthenia

Expression for Thrombasthenia

Search GEO for disease gene expression data for Thrombasthenia.

Pathways for Thrombasthenia

Pathways related to Thrombasthenia according to GeneCards Suite gene sharing:

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 CD36 EGF F2 ITGA2 ITGA2B ITGB3
2
Show member pathways
12.92 EGF ITGA2 ITGA2B ITGB3 PTK2 VTN
3
Show member pathways
12.81 EGF ITGA2 ITGA2B ITGB3 PTK2 VTN
4
Show member pathways
12.81 CD36 EGF F2 F3 F5 GP1BA
5 12.53 EGF F2 ITGA2 ITGA2B ITGB3 PTK2
6
Show member pathways
12.34 EGF ITGA2 ITGA2B ITGB3 PTK2
7
Show member pathways
12.33 EGF ITGB3 PTK2 VTN
8 12.21 HPSE ITGA2 ITGB3 PTK2 VTN
9 12.09 ITGA2 ITGA2B ITGB3 PTK2
10
Show member pathways
12.06 F2 F3 F5 GP1BA GP9
11 12.02 F2 F3 F5 VTN
12 11.93 F3 ITGB3 PTK2
13 11.89 GP1BA GP9 ITGA2 ITGA2B ITGB3
14
Show member pathways
11.88 CD36 GP1BA GP9 ITGA2 ITGA2B ITGB3
15 11.83 CD36 GP1BA ITGA2 ITGA2B ITGB3
16 11.8 ITGA2 ITGA2B PTK2
17
Show member pathways
11.79 F2 GP1BA GP9 ITGA2B ITGB3 PTK2
18 11.75 ITGA2 ITGA2B ITGB3 VTN
19 11.72 CD36 GP1BA GP9 ITGA2 ITGA2B ITGB3
20 11.69 ITGB3 PTK2 VTN
21
Show member pathways
11.64 ITGA2 ITGB3 VTN
22 11.6 GTF3A ITGB3 SELP
23 11.49 EGF ITGA2B ITGB3
24 11.49 ITGA2 ITGA2B ITGB3 VTN
25 11.47 ITGA2 ITGA2B ITGB3 PTK2
26 11.46 GP1BA SELP VTN
27 11.46 GP9 ITGA2B ITGB3
28 11.36 ITGA2 ITGB3 VTN
29 11.29 HPSE ITGA2 ITGA2B
30 11.26 EGF ITGA2B ITGB3
31 10.81 CD36 F2 GP9 ITGA2 ITGA2B ITGB3
32 10.77 GP1BA GP9 ITGA2
33 10.73 ITGB3 PTK2
34 10.65 GP1BA GP9

GO Terms for Thrombasthenia

Cellular components related to Thrombasthenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.8 CD36 F3 GP1BA ITGA2 ITGA2B ITGB3
2 external side of plasma membrane GO:0009897 9.55 CD36 F2 ITGA2 ITGA2B SELP
3 alphav-beta3 integrin-vitronectin complex GO:0071062 9.26 ITGB3 VTN
4 integrin complex GO:0008305 9.13 ITGA2 ITGA2B ITGB3
5 platelet alpha granule membrane GO:0031092 8.92 CD36 ITGA2B ITGB3 SELP
6 plasma membrane GO:0005886 10.15 CD36 EGF F2 F3 F5 GP1BA

Biological processes related to Thrombasthenia according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.88 ITGA2 ITGA2B ITGB3 PTK2 VTN
2 positive regulation of protein kinase B signaling GO:0051897 9.85 EGF F3 HPSE PTK2
3 platelet activation GO:0030168 9.83 F2 GP1BA GP9 ITGB3
4 integrin-mediated signaling pathway GO:0007229 9.81 ITGA2 ITGA2B ITGB3 PTK2
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.8 CD36 EGF ITGB3 VTN
6 wound healing GO:0042060 9.78 HPSE ITGA2 ITGB3
7 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.74 F2 PTK2 SELP
8 cell-matrix adhesion GO:0007160 9.72 HPSE ITGA2 ITGA2B ITGB3 VTN
9 platelet aggregation GO:0070527 9.71 GP1BA ITGA2B ITGB3
10 hemostasis GO:0007599 9.65 F2 F3 F5 GP1BA GP9
11 cell adhesion GO:0007155 9.65 CD36 GP1BA GP9 HPSE ITGA2 ITGA2B
12 apoptotic cell clearance GO:0043277 9.63 CD36 ITGB3
13 positive regulation of smooth muscle cell migration GO:0014911 9.63 ITGA2 VTN
14 blood coagulation, intrinsic pathway GO:0007597 9.63 F2 GP1BA GP9
15 platelet degranulation GO:0002576 9.63 CD36 EGF F5 ITGA2B ITGB3 SELP
16 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.62 ITGB3 VTN
17 cell-substrate adhesion GO:0031589 9.62 ITGA2 ITGB3
18 positive regulation of ubiquitin-dependent protein catabolic process GO:2000060 9.61 EGF PTK2
19 cell adhesion mediated by integrin GO:0033627 9.61 ITGA2 ITGB3 VTN
20 mesodermal cell differentiation GO:0048333 9.6 ITGA2 ITGB3
21 regulation of blood coagulation GO:0030193 9.59 F2 GP1BA
22 angiogenesis involved in wound healing GO:0060055 9.58 HPSE ITGB3
23 positive regulation of positive chemotaxis GO:0050927 9.58 F3 ITGA2
24 positive regulation of leukocyte migration GO:0002687 9.58 ITGA2 ITGA2B SELP
25 positive regulation of phagocytosis, engulfment GO:0060100 9.56 CD36 ITGA2
26 positive regulation of blood coagulation GO:0030194 9.54 CD36 F2 HPSE
27 blood coagulation GO:0007596 9.23 CD36 F2 F3 F5 GP1BA GP9

Molecular functions related to Thrombasthenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.33 ITGA2 ITGB3 VTN
2 thrombospondin receptor activity GO:0070053 8.96 CD36 F2
3 extracellular matrix binding GO:0050840 8.8 ITGA2B ITGB3 VTN

Sources for Thrombasthenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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