MCID: INT078
MIFTS: 48

Intracranial Thrombosis

Categories: Blood diseases, Cardiovascular diseases, Neuronal diseases
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Aliases & Classifications for Intracranial Thrombosis

MalaCards integrated aliases for Intracranial Thrombosis:

Name: Intracranial Thrombosis 11 43 14 71
Cerebral Thrombosis 11 75 53 71
Thrombosis of Cerebral Veins 71
Cerebral Arterial Thrombosis 71

Classifications:



External Ids:

Disease Ontology 11 DOID:4193
ICD9CM 34 434.0
MeSH 43 D020767
SNOMED-CT 68 155401002
UMLS 71 C0079102 C0151945 C0752143 more

Summaries for Intracranial Thrombosis

MalaCards based summary: Intracranial Thrombosis, also known as cerebral thrombosis, is related to cerebral sinovenous thrombosis and homocystinuria. An important gene associated with Intracranial Thrombosis is SERPINC1 (Serpin Family C Member 1), and among its related pathways/superpathways are Signal Transduction and Response to elevated platelet cytosolic Ca2+. The drugs Tenecteplase and Plasminogen have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and heart, and related phenotypes are no effect and no effect

Wikipedia: 75 A thrombus (plural thrombi), colloquially called a blood clot, is the final product of the blood... more...

Related Diseases for Intracranial Thrombosis

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

(show top 50) (show all 412)
# Related Disease Score Top Affiliating Genes
1 cerebral sinovenous thrombosis 30.3 F5 F2
2 homocystinuria 30.1 SERPINC1 MTHFR F8 F5
3 polycythemia 30.0 F5 F3 F2 CRP
4 hemiplegia 30.0 PLG PLAT CRP
5 protein c deficiency 29.9 SERPINC1 MTHFR F5 F2 APOH
6 vasculitis 29.9 VWF SELP CRP APOH
7 dysfibrinogenemia, congenital 29.8 SERPINC1 PLAT FGA F5 F2
8 hemoglobinuria 29.8 SERPINC1 SELP F2
9 middle cerebral artery infarction 29.8 PLG PLAT F3
10 vitamin k deficiency bleeding 29.8 SERPINC1 F8 F3 F2
11 central nervous system origin vertigo 29.7 SERPINC1 PLG MTHFR F2
12 hemophilia 29.7 VWF F8 F2 F10
13 aphasia 29.7 PLG PLAT CRP
14 eclampsia 29.7 SERPINC1 MTHFR F3 F2 APOH
15 collagen disease 29.7 VWF CRP APOH
16 sneddon syndrome 29.7 SERPINC1 F8 F5 F2 APOH
17 protein s deficiency 29.6 SERPINC1 MTHFR FGA F5 F3 F2
18 beta-thalassemia 29.5 SERPINC1 MTHFR F5 F2 CRP
19 heart septal defect 29.5 SERPINC1 F3 F2 CRP
20 placental abruption 29.5 SERPINC1 MTHFR F5 F3 F2 APOH
21 hemophilia a 29.5 VWF F8 F3 F2 F10
22 brain stem infarction 29.5 PLG PLAT CRP
23 severe covid-19 29.5 VWF F3 F2 CRP
24 livedoid vasculitis 29.5 SERPINC1 PLG MTHFR F3 F2 APOH
25 heparin-induced thrombocytopenia 29.4 PF4 ITGA2B F3 F2
26 nephrotic syndrome 29.4 SERPINC1 PLG FGA F3 F2 CRP
27 covid-19 29.4 PLG F3 F2 CRP
28 papilledema 29.4 SERPINC1 F3 F2 CRP APOH
29 mastoiditis 29.3 SERPINC1 MTHFR F3 F2 CRP
30 sickle cell anemia 29.3 VWF SERPINC1 SELP F3 F2 CRP
31 aspiration pneumonia 29.3 PLAT F3 F2 CRP
32 cavernous sinus thrombosis 29.2 SERPINC1 PF4 F3 F2 CRP
33 factor viii deficiency 29.1 VWF SERPINC1 F8 F5 F3 F2
34 acute cor pulmonale 29.1 PLG PLAT F3 F2 CRP
35 essential thrombocythemia 29.1 VWF SELP PLAT PF4 ITGA2B
36 respiratory failure 29.1 VWF SERPINC1 PLG F3 F2 CRP
37 deficiency anemia 29.1 VWF SERPINC1 PLG F3 F2 CRP
38 atherosclerosis susceptibility 29.0 VWF SELP PLAT PLA2G7 MTHFR F3
39 polycythemia vera 28.9 VWF SERPINC1 SELP PF4 F5 F3
40 factor xiii deficiency 28.9 VWF SERPINC1 F8 F5 F3 F2
41 behcet syndrome 28.9 VWF SERPINC1 MTHFR F5 F3 F2
42 inflammatory bowel disease 28.8 SERPINC1 SELP PLA2G7 MTHFR F5 F2
43 hyperhomocysteinemia 28.7 VWF SERPINC1 SELP PLAT MTHFR F5
44 thrombophilia due to activated protein c resistance 28.7 VWF SERPINC1 PLG MTHFR F8 F5
45 antithrombin iii deficiency 28.7 SERPINC1 PLG PF4 MTHFR FGA F5
46 intracranial embolism 28.7 VWF SERPINC1 SELP PLG PLAT ITGA2B
47 cerebrovascular disease 28.6 SELP PLG PLAT P2RY12 MTHFR F5
48 transient cerebral ischemia 28.6 VWF SERPINC1 PLG PLAT P2RY12 MTHFR
49 thrombocytosis 28.5 VWF SERPINC1 SELP PF4 FGA F3
50 systemic lupus erythematosus 28.5 VWF SERPINC1 SELP PLG F8 F3

Comorbidity relations with Intracranial Thrombosis via Phenotypic Disease Network (PDN): (show all 19)


Active Peptic Ulcer Disease Acute Cystitis
Aortic Valve Disease 1 Benign Essential Hypertension
Cerebral Atherosclerosis Cerebrovascular Disease
Decubitus Ulcer Epilepsy, Focal, with Speech Disorder and with or Without Impaired Intellectual Development
Familial Atrial Fibrillation Generalized Atherosclerosis
Heart Disease Hypertension, Essential
Intracranial Embolism Malignant Essential Hypertension
Peripheral Vascular Disease Schizophreniform Disorder
Spastic Hemiplegia Swallowing Disorders
Transient Cerebral Ischemia

Graphical network of the top 20 diseases related to Intracranial Thrombosis:



Diseases related to Intracranial Thrombosis

Symptoms & Phenotypes for Intracranial Thrombosis

GenomeRNAi Phenotypes related to Intracranial Thrombosis according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 APOH CRP F10 F11 F2 F3
2 no effect GR00402-S-2 10.17 APOH CRP F10 F2 F3 F5

MGI Mouse Phenotypes related to Intracranial Thrombosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.38 APOH CRP F10 F11 F2 F3
2 nervous system MP:0003631 10.21 F11 F2 F3 F5 FGA ITGA2B
3 cardiovascular system MP:0005385 10.18 CRP F10 F11 F2 F3 F5
4 immune system MP:0005387 10.17 CRP F11 F2 F3 F8 FGA
5 hematopoietic system MP:0005397 10 F11 F2 F3 F8 FGA GP6
6 reproductive system MP:0005389 9.96 F10 F2 F8 FGA GP6 ITGA2B
7 mortality/aging MP:0010768 9.89 APOH F10 F11 F2 F3 F5
8 integument MP:0010771 9.32 F2 F3 F5 FGA GP6 ITGA2B

Drugs & Therapeutics for Intracranial Thrombosis

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tenecteplase Approved Phase 3 191588-94-0
2
Plasminogen Approved Phase 3 9001-91-6
3
Heparin, bovine Approved, Investigational, Withdrawn Phase 2, Phase 3 9005-49-6 22833565 9812414 772
4
Reviparin Approved, Investigational Phase 2, Phase 3 9041-08-1
5 Plasminogen Inactivators Phase 3
6 Heparin, Low-Molecular-Weight Phase 2, Phase 3
7 Fibrinolytic Agents Phase 2, Phase 3
8 Calcium heparin Phase 2, Phase 3
9 Anticoagulants Phase 2, Phase 3
10 Tissue Plasminogen Activator Phase 2, Phase 3
11
Angiotensin II Approved, Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198
12
Thrombin Approved, Investigational
13
Ferrous fumarate Approved 141-01-5
14
Levonorgestrel Approved, Investigational 797-63-7 13109
15
Ethinylestradiol Approved 57-63-6 5991
16
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
17
Polyestradiol phosphate Approved 28014-46-2
18
Norethisterone Approved 68-22-4 199472 6230
19
Angiotensinogen 16133225
20 Liver Extracts
21 Giapreza
22 Plasminogen Activator Inhibitor 1
23 polysaccharide-K
24 Contraceptives, Oral, Hormonal
25 Contraceptives, Oral, Combined
26 Contraceptives, Oral
27 Contraceptive Agents
28 Estrogens
29 Ethinyl estradiol, levonorgestrel drug combination
30 Hormones
31 Hormone Antagonists
32 Estradiol 3-benzoate
33 Estradiol 17 beta-cypionate
34 Norinyl
35 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination
36
Norethindrone Acetate 541197

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Alteplase Compared to Tenecteplase in Patients With Acute Ischemic Stroke: QuICR & OPTIMISE Registry Based Pragmatic Randomized Controlled Trial Active, not recruiting NCT03889249 Phase 3 Tenecteplase;Alteplase
2 Thrombolysis or Anticoagulation for Cerebral Venous Thrombosis (TOACT) Terminated NCT01204333 Phase 2, Phase 3 Endovascular thrombolysis;Heparin
3 Prevention for the Restenosis of Intracranial Artery Stent Implantation Treated With Herbal Medicine C117--PRISIT Trial Unknown status NCT03008798 Phase 2 Herbal Medicine C-117;The Placebo of Herbal Medicine C-117
4 The Safety and Efficacy of Intracranial Thrombosis Aspiration Catheter for Recanalization in Acute Ischemic Stroke Therapy- A Prospective, Multicenter, Open Label, Blinded, Randomized Controlled, Non-inferiority Study Unknown status NCT03753061
5 Investigating the Involvement of ACE and Angiotensinogen Genes' Polymorphism Along With Other Thrombophilic Genotypes in Severe Forms of COVID-19 With/Without Thrombotic Events Unknown status NCT04519398
6 Utility of Modern Ultrasound Techniques in the Evaluation of Cerebral Venous Sinuses in Neonates Completed NCT00555932
7 The Impact of Cranioplasty on Local and Global Cerebral Blood Flow as Clinical Outcome Prognostic Factor in Patients Undergoing Decompressive Craniectomy for Severe Head Injury. Completed NCT01113645
8 Postmarketing Study Of Lybrel In Relation To Venous Thromboembolism Completed NCT01297348 90ug levonorgestrel / 20 ug ethinyl estradiol;Oral Contraceptives containing 20 ug of ethinyl estradiol
9 Stroke Thrombectomy and Aneurysm Registry Recruiting NCT04994756
10 adaptatiVe Endovascular Strategy to the CloT MRI in Large Intracranial Vessel Occlusion Active, not recruiting NCT04139486
11 A Prospective, Multi-center, Single-arm Objective Performance Criteria Trial to Evaluate the Safety and Efficacy of Intracranial Thrombus Aspiration Catheter in Treatment of Acute Large-vessel Occlusive Stroke Terminated NCT05101668

Search NIH Clinical Center for Intracranial Thrombosis

Cochrane evidence based reviews: intracranial thrombosis

Genetic Tests for Intracranial Thrombosis

Anatomical Context for Intracranial Thrombosis

Organs/tissues related to Intracranial Thrombosis:

MalaCards : Liver, Brain, Heart, Endothelial, Whole Blood, Lung, Thymus

Publications for Intracranial Thrombosis

Articles related to Intracranial Thrombosis:

(show top 50) (show all 745)
# Title Authors PMID Year
1
Cerebral thrombosis associated with heterozygous factor V Leiden mutation and high lipoprotein(a) level in a girl with factor XIII deficiency. 53 62
17473580 2007
2
Significance of factor V, prothrombin, MTHFR, and PAI-1 genotypes in childhood cerebral thrombosis. 53 62
17456624 2007
3
[A 50-year history of new drugs in Japan-the development and trends of hemostatics and antithrombotic drugs]. 53 62
14570069 2003
4
Development of argatroban as an anticoagulant and antithrombin agent in Japan. 53 62
12811008 2002
5
[Neonatal cerebral thrombosis and deficit of factor V leiden]. 53 62
11003860 2000
6
Sustained activation of blood coagulation in patients with cerebral thrombosis. 53 62
7485075 1995
7
A case of cerebral infarction associated with positive antiphospholipid antibody in a systemic lupus patient. 53 62
8038146 1994
8
[Coagulation and fibrinolytic parameters in patients with various angiopathies--analysis in cerebral thrombosis, diabetic and vasculitic neuropathies]. 53 62
8403679 1993
9
Platelet-activating factor acetylhydrolase in plasma lipoproteins from patients with ischemic stroke. 53 62
1636183 1992
10
Platelet-activating factor acetylhydrolase activity in red blood cell-stroma from patients with cerebral thrombosis. 53 62
1414232 1992
11
Coagulation-fibrinolysis abnormalities in acute and chronic phases of cerebral thrombosis and embolism. 53 62
2148232 1990
12
Rhino-orbito-cerebral mucormycosis: patient characteristics in pre-COVID-19 and COVID-19 period. 62
36150158 2022
13
Fatal intracranial bleedings in a viper bite: A case report. 62
36180309 2022
14
Hirudin alleviates acute ischemic stroke by inhibiting NLRP3 inflammasome-mediated neuroinflammation: In vivo and in vitro approaches. 62
35724604 2022
15
Symptomatic atherosclerotic plaque accompanied by carotid web. 62
35985013 2022
16
The Effect of Ticagrelor for Endovascular Intervention of Intracranial Aneurysm Patients with or without Clopidogrel Resistant: A Meta-Analysis. 62
36009140 2022
17
Are corticosteroids useful in the treatment of brain edema associated with venous cerebral thrombosis (CVT) in patients with COVID-19 vaccine-related CVT? A controversial topic. 62
35987930 2022
18
An Adolescent With Cerebral Thrombosis Successfully Treated With Rivaroxaban. 62
35947051 2022
19
Electrochemical Quantitation of the Glycosylation Level of Serum Neurofilament Light Chain for the Diagnosis of Neurodegeneration: An Interface-Solution Dual-Path Amplification Strategy. 62
35913270 2022
20
CRANet: a comprehensive residual attention network for intracranial aneurysm image classification. 62
35931949 2022
21
[Effect of unicompartmental knee arthroplasty in patients over 75 years old with knee osteoarthritis]. 62
35859374 2022
22
Re. Re.: "Immunothrombotic dysregulation in Chagas disease and COVID19: a comparative study of anticoagulation". 62
35829869 2022
23
Intracranial thrombosis after ventriculoperitoneal shunting. 62
34390380 2022
24
Thrombosis origin identification of cardioembolism and large artery atherosclerosis by distinct metabolites. 62
35654581 2022
25
Promoting the Resolution of Thromboinflammation. 62
35557221 2022
26
Mechanisms of hypoxia in the hippocampal CA3 region in postoperative cognitive dysfunction after cardiopulmonary bypass. 62
35526011 2022
27
Vaccine-induced immune thrombotic thrombocytopenia after ChAdOx1 nCoV-19 vaccine in an older patient: Minireview and a case report. 62
35580449 2022
28
Concurrent Coronary, Left Ventricle, and Cerebral Thrombosis - A Trilogy. 62
35754676 2022
29
Co-relation of Monocyte Count in High vs. Low Thrombus Burden ST-Segment Elevated Myocardial Infarction (STEMI) Patients Undergoing Primary Percutaneous Coronary Intervention. 62
35607551 2022
30
Delayed cerebral thrombosis complicating bacterial meningitis. 62
33455561 2022
31
SARS-CoV-2 interacts with renin-angiotensin system: impact on the central nervous system in elderly patients. 62
35157210 2022
32
High-Resolution Magnetic Resonance Imaging (HR-MRI) Evaluation of the Distribution and Characteristics of Intra-Aneurysm Thrombosis to Improve Clinical Diagnosis of Thrombotic Intracranial Aneurysm. 62
35400731 2022
33
Arterial intracranial thrombosis as the first manifestation of vaccine-induced immune thrombotic thrombocytopenia (VITT): a case report. 62
35022931 2022
34
Effect of accountable care on the recovery of speech, limb function and self-care ability of daily life in patients with cerebral thrombosis. 62
35266682 2022
35
Pneumococcal Meningitis in Adults: A Prospective Nationwide Cohort Study Over a 20-year Period. 62
34036322 2022
36
Blockage of citrate export prevents TCA cycle fragmentation via Irg1 inactivation. 62
35172156 2022
37
Clinical and genetic features of Chinese pediatric patients with severe congenital protein C deficiency who first presented with purpura fulminans: A case series study and literature review. 62
35026611 2022
38
Multiple Sites of Arterial Thrombosis in A 35-Year Old Patient after ChAdOx1 (AstraZeneca) Vaccination, Requiring Emergent Femoral and Carotid Surgical Thrombectomy. 62
34644642 2022
39
Acute T2*-Weighted Magnetic Resonance Imaging Detectable Cerebral Thrombosis in a Rat Model of Subarachnoid Hemorrhage. 62
34076826 2022
40
Venous and arterial cerebral thrombosis: a COVID-19 dual pathology and single possible etiology-a case report. 62
35068921 2022
41
Janus Kinase-2 V617F Mutation and Antiphospholipid Syndrome in Cerebral Sinus Venous Thrombosis: Natural History and Retrospective Bicenter Analysis. 62
35493844 2022
42
Extensive Cerebral Venous Thrombosis Secondary to Recreational Nitrous Oxide Abuse. 62
34515072 2022
43
Linezolid-Induced Pancytopenia in Patients Using Dapagliflozin: A Case Series. 62
36158232 2022
44
When Worlds Collide: An Interesting Case of Rhinocerebral Mucormycosis Exacerbated by COVID-19 and Diabetic Ketoacidosis Complicated by Intraorbital Hematoma. 62
35186519 2022
45
Role of the renin-angiotensin system in the development of COVID-19-associated neurological manifestations. 62
36187294 2022
46
Development of Mini-Barcode Based on Chloroplast Genome and Its Application in Metabarcoding Molecular Identification of Chinese Medicinal Material Radix Paeoniae Rubra (Chishao). 62
35432422 2022
47
Socioeconomic status and ADL disability of the older adults: Cumulative health effects, social outcomes and impact mechanisms. 62
35143499 2022
48
Infarct growth precedes cerebral thrombosis following experimental stroke in mice. 62
34819574 2021
49
Superior Sagittal Sinus Thrombosis in a Young, Immunocompetent HIV Patient: A Rare Case. 62
34786227 2021
50
L-Asparaginase Toxicity in the Treatment of Children and Adolescents with Acute Lymphoblastic Leukemia. 62
34640436 2021

Variations for Intracranial Thrombosis

Expression for Intracranial Thrombosis

Search GEO for disease gene expression data for Intracranial Thrombosis.

Pathways for Intracranial Thrombosis

Pathways related to Intracranial Thrombosis according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1 13.61 VWF PLG PLAT PF4 P2RY12 ITGA2B
2
Show member pathways
12.95 APOH F10 F11 F2 F3 F5
3
Show member pathways
12.56 SERPINC1 FGA F8 F5 F3 F2
4
Show member pathways
12.42 CRP F10 F2 FGA ITGA2B PLG
5
Show member pathways
12.2 SERPINC1 PLG FGA F5 F2
6
Show member pathways
12.08 SELP PF4 GP6 F2
7
Show member pathways
11.9 F10 F11 F2 F3 F5 F8
8
Show member pathways
11.79 F8 F2 F10
9
Show member pathways
11.74 VWF ITGA2B FGA F2
10 11.39 PLG PLAT FGA
11 11.34 VWF P2RY12 ITGA2B GP6 FGA F2
12 11.32 FGA PLAT PLG
13 11.24 PF4 ITGA2B F3 F2
14 11.13 PLAT FGA F10
15 11.12 SELP PLG PLAT
16 10.68 PLG PLAT
17
Show member pathways
10.64 F8 F10
18 10.43 PLG FGA F2

GO Terms for Intracranial Thrombosis

Cellular components related to Intracranial Thrombosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.42 APOH CRP F10 F11 F2 F3
2 cell surface GO:0009986 10.22 PLG PLAT P2RY12 ITGA2B GP6 FGA
3 endoplasmic reticulum lumen GO:0005788 10.21 SERPINC1 FGA F8 F5 F2 F10
4 external side of plasma membrane GO:0009897 10.18 SELP ITGA2B FGA F3 F2 F10
5 collagen-containing extracellular matrix GO:0062023 10.09 VWF SERPINC1 PLG PLAT PF4 FGA
6 blood microparticle GO:0072562 10.07 F2 FGA ITGA2B PLG SERPINC1
7 platelet alpha granule GO:0031091 9.88 VWF FGA F5
8 extracellular space GO:0005615 9.81 VWF SERPINC1 SELP PLG PLAT PLA2G7
9 platelet alpha granule lumen GO:0031093 9.73 F5 F8 FGA PF4 PLG VWF
10 obsolete intrinsic component of external side of plasma membrane GO:0031233 9.46 F3 F10

Biological processes related to Intracranial Thrombosis according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 fibrinolysis GO:0042730 10.03 F2 FGA PLAT PLG
2 blood coagulation GO:0007596 10.02 F10 F11 F2 F3 F5 F8
3 negative regulation of fibrinolysis GO:0051918 10.01 PLG PLAT F2 APOH
4 acute-phase response GO:0006953 9.97 F8 F2 CRP
5 plasminogen activation GO:0031639 9.97 PLAT FGA F11 APOH
6 platelet activation GO:0030168 9.9 VWF PF4 P2RY12 GP6 FGA F2
7 blood coagulation, intrinsic pathway GO:0007597 9.81 F8 APOH
8 positive regulation of fibrinolysis GO:0051919 9.78 PLG F11
9 trans-synaptic signaling by BDNF, modulating synaptic transmission GO:0099183 9.76 PLG PLAT
10 regulation of blood coagulation GO:0030193 9.72 SERPINC1 F2 F11 APOH
11 regulation of body fluid levels GO:0050878 9.56 F10 F2 F5 F8
12 hemostasis GO:0007599 9.47 F10 F11 F2 F3 F5 F8

Molecular functions related to Intracranial Thrombosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.86 PLA2G7 F3 F10 APOH
2 serine-type endopeptidase activity GO:0004252 9.73 F10 F11 F2 F3 PLAT PLG
3 peptidase activity GO:0008233 9.72 PLG PLAT F2 F11 F10
4 serine-type peptidase activity GO:0008236 9.63 PLG PLAT F2 F11 F10
5 heparin binding GO:0008201 9.4 SERPINC1 SELP PF4 F2 F11 APOH

Sources for Intracranial Thrombosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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