MCID: THR123
MIFTS: 38

Thrombotic Microangiopathy

Categories: Blood diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Thrombotic Microangiopathy

MalaCards integrated aliases for Thrombotic Microangiopathy:

Name: Thrombotic Microangiopathy 58 32

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

ICD10 32 M31.1
MESH via Orphanet 44 D057049
UMLS via Orphanet 72 C2717961
Orphanet 58 ORPHA93573

Summaries for Thrombotic Microangiopathy

MalaCards based summary : Thrombotic Microangiopathy is related to de novo thrombotic microangiopathy after kidney transplantation and thrombotic thrombocytopenic purpura, congenital. An important gene associated with Thrombotic Microangiopathy is ADAMTS13 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement Pathway. The drugs Lactulose and Magnesium Sulfate have been mentioned in the context of this disorder. Affiliated tissues include kidney, endothelial and bone, and related phenotype is pigmentation.

Wikipedia : 74 Thrombotic microangiopathy (TMA) is a pathology that results in thrombosis in capillaries and... more...

Related Diseases for Thrombotic Microangiopathy

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

(show top 50) (show all 525)
# Related Disease Score Top Affiliating Genes
1 de novo thrombotic microangiopathy after kidney transplantation 34.0 CFI CFH
2 thrombotic thrombocytopenic purpura, congenital 33.7 CFH ADAMTS13
3 purpura 32.0 VWF ADAMTS13
4 thrombotic thrombocytopenic purpura 31.4 VWF CFI CFH CD46 ADAMTS13
5 acute kidney failure 31.3 CFH ADAMTS13
6 disseminated intravascular coagulation 30.9 VWF ADAMTS13
7 malignant hypertension 30.8 VWF CFH ADAMTS13
8 antiphospholipid syndrome 30.7 VWF CFH ADAMTS13
9 catastrophic antiphospholipid syndrome 30.7 CFH ADAMTS13
10 nephrosclerosis 30.4 VEGFA ADAMTS13
11 hypertensive encephalopathy 30.3 VEGFA ADAMTS13
12 glomerulonephritis 30.2 CFI CFH CD46
13 membranoproliferative glomerulonephritis 30.2 CFH CD46
14 severe pre-eclampsia 30.2 VEGFA CFH
15 methylmalonic aciduria and homocystinuria, cblc type 30.1 CFI CFH
16 hypertensive retinopathy 29.9 VWF VEGFA ADAMTS13
17 angiosarcoma 29.9 VWF VEGFA
18 hemolytic-uremic syndrome 29.8 VWF CFI CFH CD46 ADAMTS13
19 thrombocytopenia 29.8 VWF CFI CFH CD46 ADAMTS13
20 hemolytic anemia 29.8 VWF CFI CFH CD46 ADAMTS13
21 yemenite deaf-blind hypopigmentation syndrome 29.7 VEGFA CFH
22 c3 glomerulopathy 29.5 CFI CFH CD46
23 complement factor h deficiency 29.5 CFI CFH CD46
24 hemolytic uremic syndrome, atypical 1 29.4 VWF CFI CFH CD46 ADAMTS13
25 alport syndrome 29.4 VEGFA CFH
26 genetic atypical hemolytic-uremic syndrome 29.4 CFI CFH CD46
27 peripheral vascular disease 29.2 VWF VEGFA
28 malaria 29.2 VWF VEGFA CFH ADAMTS13
29 myocardial infarction 29.1 VWF VEGFA CFH ADAMTS13
30 enterocolitis 29.0 CFI CFH CD46
31 meningitis 28.9 VEGFA CFI CD46
32 systemic lupus erythematosus 28.5 VWF VEGFA CFI CFH CD46 ADAMTS13
33 hellp syndrome 28.2 VWF VEGFA CFI CFH CD46 ADAMTS13
34 genetic thrombotic microangiopathy 12.4
35 thrombotic thrombocytopenic purpura, acquired 11.0
36 graft-versus-host disease 10.8
37 pulmonary hypertension 10.8
38 kidney disease 10.7
39 end stage renal failure 10.7
40 acute graft versus host disease 10.7
41 respiratory failure 10.6
42 pre-eclampsia 10.6
43 lupus erythematosus 10.6
44 nephrotic syndrome 10.6
45 vasculitis 10.6
46 myeloma, multiple 10.5
47 gastric adenocarcinoma 10.5
48 chronic kidney disease 10.5
49 autoimmune disease 10.5
50 systemic scleroderma 10.5

Graphical network of the top 20 diseases related to Thrombotic Microangiopathy:



Diseases related to Thrombotic Microangiopathy

Symptoms & Phenotypes for Thrombotic Microangiopathy

MGI Mouse Phenotypes related to Thrombotic Microangiopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.8 ADAMTS13 CD46 CFH

Drugs & Therapeutics for Thrombotic Microangiopathy

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

(show top 50) (show all 96)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lactulose Approved Phase 4 4618-18-2 11333
2
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
3
Remifentanil Approved Phase 4 132875-61-7 60815
4
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
5
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
6 Analgesics Phase 4
7 Tocolytic Agents Phase 4
8 Anti-Arrhythmia Agents Phase 4
9 Anesthetics Phase 4
10 Anticonvulsants Phase 4
11 Calcium, Dietary Phase 4
12 calcium channel blockers Phase 4
13 Central Nervous System Depressants Phase 4
14 Hormones Phase 4
15 Anesthetics, Local Phase 4
16 Narcotics Phase 4
17 Sodium Channel Blockers Phase 4
18 Analgesics, Opioid Phase 4
19 Diuretics, Potassium Sparing Phase 4
20
Acetylcysteine Approved, Investigational Phase 3 616-91-1 12035
21
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
22
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
23
leucovorin Approved Phase 3 58-05-9 6006 143
24
Sodium citrate Approved, Investigational Phase 3 68-04-2
25
Lenograstim Approved, Investigational Phase 3 135968-09-1
26
Mesna Approved, Investigational Phase 3 3375-50-6 598
27
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
28
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
29 Immunoglobulins Phase 2, Phase 3
30 Antibodies Phase 2, Phase 3
31 Respiratory System Agents Phase 3
32 N-monoacetylcystine Phase 3
33 Free Radical Scavengers Phase 3
34 Antioxidants Phase 3
35 Antiviral Agents Phase 3
36 Protective Agents Phase 3
37 Antidotes Phase 3
38 Expectorants Phase 3
39 Pharmaceutical Solutions Phase 2, Phase 3
40 Shiga Toxins Phase 2, Phase 3
41 Anticoagulants Phase 3
42 Coagulants Phase 3
43 Alkylating Agents Phase 3
44 Vitamin B Complex Phase 3
45 Folic Acid Antagonists Phase 3
46 Vitamin B9 Phase 3
47 Citrate Phase 3
48 Dermatologic Agents Phase 3
49 Cyclosporins Phase 3
50 Folate Phase 3

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 Phase 4 Study :Human Kidney Histopathology in Acute Obstructive Jaundice: a Prospective Study Completed NCT01090193 Phase 4
2 Effect of Intravenous Infusion of Lidocaine, Magnesium Sulphate and Remifentanil Perioperatively in Patients Undergoing Mastectomy: a Prospective, Randomized and Double-blind Study Completed NCT02309879 Phase 4 Remifentanil infusion;Lidocaine infusion;Magnesium sulphate infusion;Magnesium sulphate and Lidocaine infusion
3 Evaluation of Potential Predictors of Disease Progression in Patients With aHUS, Including Genetics, Biomarkers and Treatment Active, not recruiting NCT02614898 Phase 4
4 A Safety and Efficacy Study of N-acetylcysteine in Patients With Hematopoietic Stem Cell Transplantation Associated Thrombotic Microangiopathy Recruiting NCT03252925 Phase 3 N-Acetylcysteine;Placebo Oral Tablet
5 A Double-blind, Placebo-controlled, Adaptive, Phase 2/3 Study to Evaluate the Pharmacokinetics, Safety, and Efficacy of INM004 in Pediatric Patients With Shiga Toxin-positive Bloody Diarrhea for Prevention of Hemolytic Uremic Syndrome Recruiting NCT04132375 Phase 2, Phase 3 INM004;Placebo
6 A Randomized, Multi-Center, Phase III Trial of Calcineurin Inhibitor-Free Interventions for Prevention of Graft-versus-Host Disease (BMT CTN #1301; Progress II) Active, not recruiting NCT02345850 Phase 3 Cyclophosphamide;Tacrolimus;Methotrexate
7 Interest of Magnesium Sulfate in Thrombotic Thrombocytopenic Purpura in Intensive Care: Multicentric Randomized Controlled Trial Not yet recruiting NCT03237819 Phase 3 Sulfate, Magnesium;Placebo - Concentrate
8 HLA-Identical Sibling Donor Bone Marrow Transplantation for Individuals With Severe Sickle Cell Disease Using a Reduced Intensity Conditioning Regimen Unknown status NCT02776202 Phase 2 Fludarabine monophosphate
9 An Open-label, Multi-center Clinical Trial of Eculizumab in Adult Patients With Atypical Hemolytic-uremic Syndrome Completed NCT01194973 Phase 2 Eculizumab
10 A Phase II Study of Sirolimus, Tacrolimus and Thymoglobulin®, as Graft-versus-Host- Disease Prophylaxis in Patients Undergoing Unrelated Donor Hematopoietic Cell Transplantation Completed NCT00691015 Phase 2 busulfan;carmustine;cyclophosphamide;cytarabine;etoposide;fludarabine phosphate;melphalan;anti-thymocyte globulin IV
11 Early Intervention With Eculizumab to Treat Thrombotic Microangiopathy/Atypical Hemolytic Uremic Syndrome (TMA/aHUS)-Associated Multiple Organ Dysfunction Syndrome (MODS) in Hematopoietic Stem Cell Transplant (HCT) Recipients Recruiting NCT03518203 Phase 2 Eculizumab
12 A Pilot Trial of Using Pre-Transplant Risk Stratification and Prophylactic Defibrotide to Prevent Serious Thrombotic Microangiopathy in High-Risk Hematopoietic Stem Cell Transplant Patients Recruiting NCT03384693 Phase 2 Defibrotide
13 A Phase II, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Safety and Efficacy of Cemdisiran (ALN-CC5) Following Withdrawal of Chronic Eculizumab Therapy in Patients With Atypical HUS at High Risk of Recurrence Not yet recruiting NCT03999840 Phase 2 cemdisiran;Placebos
14 A Randomized, Double-blind, Placebo Controlled, Clinical Outcome Study of ARC1779 Injection in Patients With Thrombotic Microangiopathy Terminated NCT00726544 Phase 2 ARC 1779 Placebo;ARC1779 Injection;ARC1779 Injection;ARC1779 Injection
15 Multicenter Trials to Evaluate the Efficacy and Toxicity of Sirolimus/Tacrolimus Combination as a GVHD Prophylaxis After HLA Matched Related PBSCT Terminated NCT01488253 Phase 2 Sirolimus;Tacrolimus
16 A Pilot Phase II Study of Sirolimus, Tacrolimus, Thymoglobulin and Rituximab as Graft-versus-Host-Disease Prophylaxis in Patients Undergoing Haploidentical and HLA Partially Matched Donor Hematopoietic Cell Transplantation Terminated NCT01116232 Phase 2 sirolimus;tacrolimus
17 A Phase 2, Open Label, Multicenter Study of ALN-CC5 Administered Subcutaneously in Adult Patients With Atypical Hemolytic Uremic Syndrome Withdrawn NCT03303313 Phase 2 Cemdisiran
18 Study of 'Vascular Competence' Profile and Endothelial Activation in the Hemolytic Uremic Syndrome in Children and Adults Unknown status NCT02904863
19 Screening of TMA Patients for ADAMTS13 Activity and the Description of Systematic Organ Damage and/or Organ Failure in Different Entities of Thrombotic Microangiopathies (TMA) Unknown status NCT02373267
20 Pathogenesis, Diagnosis, Management and Outcome of Hemostatic Complications in Hematopoietic Stem Cell Transplantation: A Prospective Study Unknown status NCT02281240 thrombopoietin, interleukin-11, heparin,
21 Research Network for Neonatal Diseases Induced by Tissular Fetomaternal Alloimmunization Completed NCT00199628
22 Assessment of Immature Platelet Fraction in Pregnancy-Associated Thrombotic Microangiopathy Completed NCT03232359
23 Identification of Early Predictive Factors of Cardiac and Cerebral Involvement in Thrombotic Microangiopathies Completed NCT02134171
24 Identification of the Pathogenesis of Thrombotic Microangiopathy in the Allo Stem Cell Transplant Setting in Adults Completed NCT02604420 eculizumab
25 ADAMTS13-related Prognostic Factors in Adult and Pediatric Thrombotic Thrombocytopenic Purpura Completed NCT00426686
26 An Observational, Non-Interventional, Multi-Center, Multi-National Study of Patients With Atypical Hemolytic-Uremic Syndrome (aHUS Registry) Recruiting NCT01522183
27 Azithromycin in Post Diarrheal Haemolytic and Uremic Syndrome Recruiting NCT02336516 Azithromycin;Placebo (glucose solution 10%)
28 Renal Biopsy Findings In Patients With Unexplained Elevated Serum Creatinine In Assiut University Hospital Active, not recruiting NCT03586531
29 Usefulness of a Diagnostic Algorithm to Diagnose Thrombotic Microangiopathies in Pregnancy Active, not recruiting NCT03580941
30 Eculizumab Use in the Postpartum Period for the Treatment of Pregnancy Associated Atypical Hemolytic Uremic Syndrome: A Case Series Active, not recruiting NCT03574506
31 Provision of OMS721 to Patients With Thrombotic Microangiopathy Under Compassionate Use Available NCT02355782
32 TRANSPIRE: Lung Injury in a Longitudinal Cohort of Pediatric HSCT Patients Not yet recruiting NCT04098445
33 An Observational Study of All Forms of Thrombotic Microangiopathy in Pediatric Patients Terminated NCT00593229

Search NIH Clinical Center for Thrombotic Microangiopathy

Genetic Tests for Thrombotic Microangiopathy

Anatomical Context for Thrombotic Microangiopathy

MalaCards organs/tissues related to Thrombotic Microangiopathy:

40
Kidney, Endothelial, Bone, Liver, Bone Marrow, Lung, Breast

Publications for Thrombotic Microangiopathy

Articles related to Thrombotic Microangiopathy:

(show top 50) (show all 3050)
# Title Authors PMID Year
1
Thrombotic microangiopathy after carfilzomib in a very young myeloma patient. 61
31887694 2020
2
The alternative complement pathway activation product Ba as a marker for transplant-associated thrombotic microangiopathy. 61
31774252 2020
3
Docetaxel chemotherapy temporarily improved pulmonary tumor thrombotic microangiopathy induced by prostate cancer secreting carcinoembryonic antigen and carbohydrate antigen 19-9: A case report. 61
31908960 2020
4
Correction to: Adrenocortical carcinoma complicated by renal thrombotic microangiopathy, a case-series. 61
32039708 2020
5
Acute Kidney Injury and CKD Associated with Hematopoietic Stem Cell Transplantation. 61
31836598 2020
6
Permanent impairment-free, relapse-free survival: A novel composite endpoint to evaluate long-term success in allogeneic transplant. 61
32035276 2020
7
Plasma Filtration Versus Centrifugation in Pediatric Therapeutic Plasma Exchange: Should the Diagnosis Define the Method?†. 61
31066994 2020
8
Thrombotic microangiopathy and liver toxicity due to a combination therapy of leflunomide and methotrexate: a case report. 61
32019572 2020
9
Efficacy and safety of open-label caplacizumab in patients with exacerbations of acquired thrombotic thrombocytopenic purpura in the HERCULES study. 61
31691462 2020
10
Sepsis-Induced Coagulopathy and Disseminated Intravascular Coagulation. 61
31443111 2020
11
Association of vascular endothelial growth factor and renal thrombotic microangiopathy-like lesions in patients with Castleman's disease. 61
31264312 2020
12
Diagnostic and Risk Factors for Complement Defects in Hypertensive Emergency and Thrombotic Microangiopathy. 61
31865800 2020
13
Successful plasma exchange in a 34-year-old woman with diabetic ketoacidosis and a thrombotic microangiopathy. 61
31652001 2020
14
Eculizumab for Severe Thrombotic Microangiopathy Secondary to Surgical Invasive Stress and Bleeding. 61
31902910 2020
15
[Comparative Clinical and Ultrastructural Analysis of the Results from Ranibizumab and Aflibercept in Patients with PDR]. 61
30736075 2020
16
Adrenocortical carcinoma complicated by renal thrombotic microangiopathy, a case-series. 61
32000700 2020
17
Atypical hemolytic uremic syndrome: a case report. 61
31928535 2020
18
Consensus regarding diagnosis and management of atypical hemolytic uremic syndrome. 61
31935318 2020
19
Renal thrombotic microangiopathy during nintedanib treatment for idiopathic pulmonary fibrosis
. 61
31699213 2020
20
Renal microvascular lesions in lupus nephritis. 61
31858861 2020
21
Anti-beta-2-glycoprotein I domain 1 identifies antiphospholipid antibodies-related injuries in patients with concomitant lupus nephritis. 61
31974856 2020
22
Utility of Genomic Testing after Renal Biopsy. 61
31822006 2020
23
Severe Acute Kidney Injury Due to Nivolumab/Ipilimumab-induced Granulomatosis and Fibrinoid Vascular Necrosis. 61
31567702 2020
24
HHV-8-negative multicentric Castleman disease presenting as a crescentic immune complexes membranoproliferative glomerulonephritis. 61
31911409 2020
25
Distribution of Transplantation-Associated Thrombotic Microangiopathy (TA-TMA) and Comparison between Renal TA-TMA and Intestinal TA-TMA: Autopsy Study. 61
31491486 2020
26
Randomized multicenter trial of sirolimus vs prednisone as initial therapy for standard-risk acute GVHD: the BMT CTN 1501 trial. 61
31738834 2020
27
Liver Xenotransplantation in a Nonhuman Primate Model. 61
32002910 2020
28
Clinical and pathological features of thrombotic microangiopathy influencing long-term kidney transplant outcomes. 61
31923282 2020
29
Primary antiphospholipid syndrome presented as thrombotic microangiopathy in renal transplantation. 61
31431303 2020
30
vWFpp/ADAMTS13 ratio is a useful marker of postliver transplantation thrombotic microangiopathy: A pediatric case report. 61
31998483 2020
31
Expression of human thrombomodulin on porcine endothelial cells can reduce platelet aggregation but did not reduce activation of complement or endothelium - an experimental study. 61
31926034 2020
32
Development of an in vitro system and model-based translational framework to assess haemolysis risk following intravenous abuse of medications containing polyethylene oxide. 61
31958510 2020
33
Complement blockade for TA-TMA: lessons learned from large pediatric cohort treated with eculizumab. 61
31932840 2020
34
Paradigm shift for the treatment of hereditary haemophilia: Towards precision medicine. 61
31676141 2020
35
Pulmonary tumor thrombotic microangiopathy of hepatocellular carcinoma: A case report and review of literature. 61
31908398 2019
36
Impact of hypertensive emergency and rare complement variants on the presentation and outcome of atypical hemolytic uremic syndrome. 61
30890598 2019
37
Complement Activation and Thrombotic Microangiopathies. 61
31694864 2019
38
A case of Moyamoya disease complicated by aHUS in a patient with a history of marginal zone B-cell lymphoma: lightning strikes thrice? 61
31811102 2019
39
Thrombotic thrombocytopenic purpura in a 2.5-year-old boy with dengue infection: a rare complication. 61
31891331 2019
40
Extrarenal manifestations of the hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli (STEC HUS). 61
30382336 2019
41
Acute kidney injury in hematopoietic stem cell transplantation. 61
31524721 2019
42
Effects of recombinant thrombomodulin on long-term prognosis after allogeneic hematopoietic stem cell transplantation. 61
31666188 2019
43
Vitamin B12 deficiency and metabolism-mediated thrombotic microangiopathy (MM-TMA). 61
31902683 2019
44
An open invitation on: Pathogen safety standard of human platelet lysate for regenerative medicine; beneficial use of PRP in treatment of musculoskeletal pathologies and newer challenges on vitamin B12 deficiency and metabolism- mediated thrombotic microangiopathy. 61
31734166 2019
45
Chronic Microangiopathy Due to DCR-MYC, a Myc-Targeted Short Interfering RNA. 61
31866228 2019
46
An Immunocompetent Case of Capnocytophaga canimorsus Infection Complicated by Secondary Thrombotic Microangiopathy and Disseminated Intravascular Coagulation. 61
31327837 2019
47
Novel Detection of CALR-Mutated Cells in Myeloproliferative Neoplasm-Related Glomerulopathy With Interstitial Extramedullary Hematopoiesis: A Case Report. 61
31377025 2019
48
Thrombotic microangiopathy involving kidney allograft and peripheral nerves. 61
31816173 2019
49
Systemic bleeding including pulmonary haemorrhage following hump-nosed pit viper (Hypnale hypnale) envenoming: A case report from Sri Lanka. 61
31513811 2019
50
Editorial Comment to Analysis of the prevalence of systemic de novo thrombotic microangiopathy after ABO-incompatible kidney transplantation and the associated risk factors. 61
31599011 2019

Variations for Thrombotic Microangiopathy

Expression for Thrombotic Microangiopathy

Search GEO for disease gene expression data for Thrombotic Microangiopathy.

Pathways for Thrombotic Microangiopathy

Pathways related to Thrombotic Microangiopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.49 CFI CFH CD46
2
Show member pathways
11.35 CFH CD46
3
Show member pathways
11.26 CFI CFH CD46
4 11.24 CFI CFH
5 11.09 VWF CFI CFH CD46

GO Terms for Thrombotic Microangiopathy

Cellular components related to Thrombotic Microangiopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.02 VWF VEGFA CFI CFH ADAMTS13
2 platelet alpha granule lumen GO:0031093 8.96 VWF VEGFA

Biological processes related to Thrombotic Microangiopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.43 CFI CFH CD46
2 viral process GO:0016032 9.33 CFI CFH CD46
3 platelet activation GO:0030168 9.32 VWF ADAMTS13
4 hemostasis GO:0007599 8.96 VWF ADAMTS13
5 regulation of complement activation GO:0030449 8.8 CFI CFH CD46

Sources for Thrombotic Microangiopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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