MCID: ERY066
MIFTS: 28

Erythema Multiforme Major

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Erythema Multiforme Major

MalaCards integrated aliases for Erythema Multiforme Major:

Name: Erythema Multiforme Major 58 71
Erythema Exsudativum Multiforme Majus 58
Erythema Multiforme Majus 58
Stevens-Johnson Syndrome 71

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Orphanet 58 ORPHA502499
UMLS 71 C0038325 C3241919

Summaries for Erythema Multiforme Major

MalaCards based summary : Erythema Multiforme Major, also known as erythema exsudativum multiforme majus, is related to erythema multiforme and severe cutaneous adverse reaction. The drugs Gabapentin and Azithromycin have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes.

Related Diseases for Erythema Multiforme Major

Diseases related to Erythema Multiforme Major via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 erythema multiforme 11.8
2 severe cutaneous adverse reaction 10.5
3 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.5
4 exanthem 10.4
5 herpes simplex 10.3
6 stevens-johnson syndrome/toxic epidermal necrolysis 10.3
7 vascular disease 10.2
8 neutropenia 10.1
9 skin disease 10.1
10 bullous pemphigoid 10.1
11 pemphigus 10.1
12 autoimmune disease 10.0
13 major affective disorder 1 10.0
14 renal cell carcinoma, nonpapillary 10.0
15 immune deficiency disease 10.0
16 yemenite deaf-blind hypopigmentation syndrome 10.0
17 meningioma, radiation-induced 10.0
18 meningioma, familial 10.0
19 nail disorder, nonsyndromic congenital, 10 10.0
20 chlamydia pneumonia 10.0
21 pemphigus gestationis 10.0
22 disseminated intravascular coagulation 10.0
23 chlamydia 10.0
24 spinal meningioma 10.0
25 cicatricial pemphigoid 10.0
26 allergic hypersensitivity disease 10.0
27 locked-in syndrome 10.0
28 quadriplegia 10.0
29 pemphigoid gestationis 10.0
30 thrombocytopenia 10.0
31 melanoma 10.0
32 focal epilepsy 10.0
33 systemic scleroderma 10.0
34 secretory meningioma 10.0
35 lymphoplasmacyte-rich meningioma 10.0
36 pneumonia 10.0
37 conjunctivitis 10.0
38 acquired immunodeficiency syndrome 10.0
39 epilepsy with generalized tonic-clonic seizures 10.0
40 impetigo 10.0
41 herpes zoster 10.0
42 crohn's disease 10.0
43 alopecia areata 10.0
44 alopecia 10.0
45 neisseria meningitidis infection 10.0
46 bullous impetigo 10.0
47 acute liver failure 10.0

Graphical network of the top 20 diseases related to Erythema Multiforme Major:



Diseases related to Erythema Multiforme Major

Symptoms & Phenotypes for Erythema Multiforme Major

Drugs & Therapeutics for Erythema Multiforme Major

Drugs for Erythema Multiforme Major (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 118)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
2
Azithromycin Approved Phase 4 83905-01-5 55185 447043
3
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
4
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
5
Sargramostim Approved, Investigational Phase 4 123774-72-1, 83869-56-1
6
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
7
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
8 Ophthalmic Solutions Phase 4
9 Antimetabolites Phase 4
10 Anti-Bacterial Agents Phase 4
11 Analgesics Phase 4
12 Central Nervous System Depressants Phase 4
13 Analgesics, Opioid Phase 4
14 Anti-Anxiety Agents Phase 4
15 Tranquilizing Agents Phase 4
16 Psychotropic Drugs Phase 4
17 Antimanic Agents Phase 4
18 Excitatory Amino Acid Antagonists Phase 4
19 Anticonvulsants Phase 4
20 Excitatory Amino Acids Phase 4
21 Analgesics, Non-Narcotic Phase 4
22 Hypolipidemic Agents Phase 4
23 Lipid Regulating Agents Phase 4
24 Neurotransmitter Agents Phase 4
25 Autonomic Agents Phase 4
26 Adrenergic Antagonists Phase 4
27 Adrenergic beta-Antagonists Phase 4
28 Sympatholytics Phase 4
29 Adrenergic Agents Phase 4
30 Sodium Channel Blockers Phase 4
31 Diuretics, Potassium Sparing Phase 4
32 Anti-Arrhythmia Agents Phase 4
33
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
34
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030 46835353
35
Lesinurad Approved, Investigational Phase 3 878672-00-5 53465279
36
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
37
Etravirine Approved Phase 3 269055-15-4 193962
38
tannic acid Approved Phase 2, Phase 3 1401-55-4
39
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
40
Maraviroc Approved, Investigational Phase 2, Phase 3 376348-65-1 3002977
41
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
42
Etanercept Approved, Investigational Phase 3 185243-69-0
43
Coal tar Approved Phase 3 8007-45-2
44
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
45
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
46 Hypoglycemic Agents Phase 3
47 Antirheumatic Agents Phase 3
48 Renal Agents Phase 3
49 Cytochrome P-450 Enzyme Inhibitors Phase 3
50 Cytochrome P-450 CYP3A Inducers Phase 3

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 Efficacy of 0.05% Cyclosporin Eye Drop in Stevens Johnson Syndrome Patient With Chronic Dry Eye Completed NCT01488396 Phase 4 0.05%cyclosporin eye drop
2 A Prospective, Randomized, Placebo-controlled Trial of Pre-transplant and Prompt Post-transplant Treatment With Azithromycin to Improve Early Allograft Function and Outcome After Lung Transplantation Completed NCT01915082 Phase 4 Azithromycin;Ora-Plus
3 Pain Control in Pediatric Posterior Spine Fusion Patients: The Effect of Gabapentin on Post-operative Opioid Use and Patient Satisfaction Completed NCT01977937 Phase 4 Gabapentin 250mg/5mL NDC:59762-5025-01;Simple Syrup
4 Phenytoin as an Augmentation for SSRI Failures: A Controlled Study Completed NCT00146237 Phase 4 phenytoin
5 Early Effect Of Bezafibrate On Fibrinogen Levels, Inflammatory Response And Clinical Impact, In Patients With ST Elevation Acute Myocardial Infarction Completed NCT02291796 Phase 4 Bezafibrate
6 Evaluation of G-CSF as a Treatment of Toxic Epidermal Necrolysis Recruiting NCT02739295 Phase 4 recombinant granulocyte - colony stimulating factor;NaCl 0.9%
7 A Pilot and Feasibility Study to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs Recruiting NCT02347111 Phase 4 Flecainide;Sotalol
8 Transdermal Lidocaine Patch for Post-Cesarean Pain Control for Women With Obesity: a Single-blind Randomized Controlled Trial Active, not recruiting NCT03810235 Phase 4 Transdermal Lidocaine Patch;Transdermal Hydrocolloid Placebo Patch
9 Prevention of Coronary Artery in STENT Restenosis With the Combined Use of Pioglitazone and Sirolimus-Eluting Coronary Stent Unknown status NCT00376870 Phase 3 Pioglitazone;Placebo
10 NPB-01(Intravenous Immunoglobulin) Therapy for Patients With Stevens-Johnson Syndrome/ Toxic Epidermal Necrolysis Unresponsive to Corticosteroids. Completed NCT01696500 Phase 3 Intravenous immunoglobulin
11 Efficacy of Cultivated Corneal Epithelial Stem Cell for Ocular Surface Reconstruction Completed NCT01237600 Phase 2, Phase 3
12 Autologous ex Vivo Conjunctival Epithelial Cell Expansion for Ocular Surface Completed NCT00346450 Phase 3
13 A Phase 3 Randomized, Double-Blind, Multicenter, Placebo- Controlled Study to Assess the Efficacy and Safety of Lesinurad Monotherapy Compared to Placebo in Subjects With Gout and an Intolerance or Contraindication to a Xanthine Oxidase Inhibitor Completed NCT01508702 Phase 3 lesinurad;Placebo
14 A Phase III, Double Blind, Mulit-centre, Randomised Placebo Controlled, Pilot Study to Assess the Feasibility of Switching Individuals Receiving Efavirez With Continuing Central Nervous System (CNS) Toxicity to TMC125. Completed NCT00792324 Phase 3 Etravirine;Efavirenz
15 Maraviroc to Augment Rehabilitation Outcomes After Stroke Recruiting NCT03172026 Phase 2, Phase 3 Maraviroc 300 mg;Placebo 300 mg
16 NATIENS: A Phase III Randomized Double Blinded Study to Determine the Mechanisms and Optimal Management of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Not yet recruiting NCT02987257 Phase 3 cyclosporin A;Etanercept 50 MG Solution for Injection;Placebos
17 Lamictal in the Treatment of Post-Herpetic Neuralgia-A Safety, Efficacy,Randomized, Double Blind, Placebo Controlled, Cross-Over Study Terminated NCT00295776 Phase 2, Phase 3 Lamictal in the treatment of Post-Herpetic Neuralgia
18 The Use of Riboflavin/Ultraviolet A Cross-linked Human Donor Corneas as Carriers for the Boston Keratoprosthesis Completed NCT01582880 Phase 1, Phase 2 Riboflavin
19 Evaluation the Effect of Amniotic Membrane Extract Eye Drop (AMEED) on Human Corneal Epithelium Healing (Phase I and II Clinical Trial) Completed NCT02746848 Phase 1, Phase 2
20 Comparison of Standard Versus Double Dose of Amoxicillin in the Treatment of Non-Severe Pneumonia in Children Aged 2-59 Months: A Multi-Centre Randomized Double Blind Controlled Trial in Pakistan Completed NCT00130013 Phase 1, Phase 2 Oral Amoxicillin
21 Palifermin Treatment of Toxic Epidermal Necrolysis Terminated NCT02037347 Phase 1, Phase 2 Palifermin
22 Infliximab Therapy to Improve Retention of the Boston Keratoprosthesis in Patients After Stevens Johnson Syndrome/ Toxic Epidermal Necrolysis Withdrawn NCT01256489 Phase 1, Phase 2 Infliximab
23 Topical Infliximab in Autoimmune Eyes With Keratoprosthesis Withdrawn NCT02126020 Phase 1, Phase 2 topical infliximab
24 Pilot Study Comparing Remicade (Infliximab) vs. Standard Care in the Treatment of Toxic Epidermal Necrolysis Withdrawn NCT00372723 Phase 2 Remicaide (infliximab)
25 A Randomized Placebo Controlled Split-body Double-blind Phase II Clinical Trial to Investigate the Safety and Efficacy of Clobetasol 0.05% Ointment for the Treatment of Toxic Epidermal Necrolysis (TEN) Withdrawn NCT02319616 Phase 1, Phase 2 Clobetasol 0.05% ointment;Placebo
26 Assessment of Fibrin Glue in Pterygium Surgery and Other Forms of Ocular Surface Reconstruction Completed NCT00344201 Phase 1
27 Topical Infliximab for the Treatment of Sterile Corneal Melt Recruiting NCT02987686 Phase 1 Topical Infliximab
28 Platelet Rich-plasma in Management of Chronic Multiple Oral Ulcers Not yet recruiting NCT03878771 Phase 1 Dermovate cream in Orabase
29 Serum Interleukin -21 Level in Patients With Severe Adverse Cutaneous Drug Reaction and Correlation With Disease Severity. Unknown status NCT03166241
30 Comparison of Corneal Epitheliotropic Factors in Autologous Serum Eye Drops Between Nonautoimmune Dry Eye and Stevens-Johnson Syndrome With Dry Eye Unknown status NCT01122303
31 A Prospective Study to Prove the Usefulness of HLA-B*5801 Screening Test for the Prevention of Allopurinol-induced Severe Cutaneous Adverse Reaction in Patient With Chronic Kidney Disease Unknown status NCT03046914
32 The Use of Pentacam in Assessment of Corneal Changes After Pterygium Excision Unknown status NCT03304366
33 The Effect of Sitagliptin on Hypertension, Arterial Stiffness, Oxidative Stress and Inflammation Unknown status NCT00696982 sitagliptin;glibenclamide
34 Salivary Gland and Labial Mucous Membrane Transplantation in the Treatment of Severe Symblepharon and Dry Eye in Patients With Stevens-Johnson Syndrome. Completed NCT01178242
35 Stevens-Johnson Syndrome Associated With Antimicrobial Completed NCT00844038
36 Evaluation of TNF-α Blockade Effect in Patients With Severe Cutaneous Adverse Drug Reactions (SCAR) Completed NCT01276314 anti- TNF-a;Prednisolone
37 A Prospective Open-label, Multicenter Clinical Investigation to Assess the Safety and Performance of ARGOS-IO System in Patients Undergoing Implantation of a Boston Keratoprosthesis (BKPro) Completed NCT02945176
38 Evaluation of Immune Responses to Different Antigens in Non Infectious Ocular Inflammatory Diseases Completed NCT00357071
39 Adverse Cutaneous Drug Reactions Collection of Clinical Data and Biological Samples Recruiting NCT03659227
40 The Effects of Minor Salivary Gland Transplantation for Cicatrizing Conjunctivitis Recruiting NCT03839069
41 The Multicenter Registry of Patients With Severe Cutaneous Adverse Reactions Among Tertiary Medical Institutes in Thailand Recruiting NCT02574988
42 Evaluating the Effect of Isotretinoin in Regulatory T-cell Function in Adverse Cutaneous Drug Eruptions (ACDEs): A Pilot Study Recruiting NCT02795143 Isotretinoin
43 The Effects of Autologous Simple Limbal Epithelial Transplantation. Recruiting NCT04021875
44 The Effects of Allogeneic Simple Limbal Epithelial Transplantation Recruiting NCT04021134
45 An Exploratory Case-Control Study of Genetic and Clinical Factors for Serious Cutaneous Reactions Among Users of Eslicarbazepine Acetate Recruiting NCT02520557
46 HLA Screening in Reducing the Risk of Antiepileptic Drug-induced Cutaneous Adverse Reactions: a Multicenter Clinical Study Recruiting NCT03184597
47 Safety and Effectiveness of a Laboratory Intervention to Effectively NOT Treat Asymptomatic Bacteriuria (SALIENT-A) Recruiting NCT03445312
48 Corneal Collagen Crosslinking to Increase the Resistance of the Graft Used as a Support for the Boston Keratoprosthesis Type I Against Corneal Melting Recruiting NCT03041883
49 An Investigator-initiated Trial (IIT) on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation in Corneal Limbal Deficiency Patients Available NCT02149732
50 A Prospective Multicenter Cohort Study Assessing Outcomes in Stevens Johnsons Syndrome and Toxic Epidermal Necrolysis Not yet recruiting NCT03585946 Site specific standard of care comparison

Search NIH Clinical Center for Erythema Multiforme Major

Genetic Tests for Erythema Multiforme Major

Anatomical Context for Erythema Multiforme Major

MalaCards organs/tissues related to Erythema Multiforme Major:

40
Skin, Eye, Testes, T Cells, Liver, Lung, Salivary Gland

Publications for Erythema Multiforme Major

Articles related to Erythema Multiforme Major:

(show top 50) (show all 3473)
# Title Authors PMID Year
1
Altered levels of complement components associated with non-immediate drug hypersensitivity reactions. 61
31795786 2020
2
Erythema multiforme, Stevens Johnson syndrome, and toxic epidermal necrolysis reported after vaccination, 1999-2017. 61
31870573 2020
3
Long-term Progression of Ocular Surface Disease in Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis. 61
32028281 2020
4
Long-term and multiple hospital readmissions after discharge for Stevens-Johnson Syndrome and toxic epidermal necrolysis. 61
32017033 2020
5
A retrospective analysis of infections and antibiotic treatment in patients with Stevens-Johnson syndrome and toxic epidermal necrolysis. 61
30095319 2020
6
Biologic TNF-alpha inhibitors in the treatment of Stevens-Johnson syndrome and toxic epidermal necrolysis: a systemic review. 61
30702955 2020
7
Searching for the Culprit Drugs for Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis from a Nationwide Claim Database in Korea. 61
31614216 2020
8
Predictors of 30-day readmission in Stevens-Johnson syndrome and toxic epidermal necrolysis: A cross-sectional database study. 61
31542405 2020
9
Stevens-Johnson syndrome and toxic epidermal necrolysis - retrospective review of cases in a high complexity hospital in Brazil. 61
31173347 2020
10
IP-10/CXCR3 axis is associated with HHV-6 reactivation and the development of sequelae in drug reaction with eosinophilia and systemic symptoms. 61
32037509 2020
11
Management of immune checkpoint inhibitor-related dermatologic adverse events. 61
31814310 2020
12
The Clinical and Financial Impact of a Pharmacist-Driven Penicillin Skin Testing Program on Antimicrobial Stewardship Practices. 61
31983768 2020
13
Pattern-Specific Loss of Desmoplakin I and II Immunoreactivity in Erythema Multiforme and its Variants: A Possible Aid in Histologic Diagnosis. 61
31599750 2020
14
Adverse Skin Reactions with Antiepileptic Drugs Using Korea Adverse Event Reporting System Database, 2008-2017. 61
31997613 2020
15
Attenuation of Wnt/β-catenin signaling in patients with Stevens-Johnson syndrome and toxic epidermal necrolysis. 61
31929762 2020
16
RIP3 as a diagnostic and severity marker for Stevens-Johnson syndrome and toxic epidermal necrolysis. 61
31954192 2020
17
Comment on: "Microbial Keratitis in Stevens-Johnson Syndrome: A Prospective Study". 61
31658166 2020
18
Common and critical inflammatory dermatoses every pathologist should know. 61
31676787 2020
19
Validation of a clinical assessment tool for cicatrising conjunctivitis. 61
31693934 2020
20
Fixed Drug Eruptions: An Update, Emphasizing the Potentially Lethal Generalized Bullous Fixed Drug Eruption. 61
32002848 2020
21
Trends in mortality rates for Stevens-Johnson syndrome and toxic epidermal necrolysis: experience of a single centre in France between 1997 and 2017. 61
31323695 2020
22
Preparation of placental tissue transplants and their application in skin wound healing and chosen skin bullous diseases - Stevens-Johnson syndrome and toxic epidermal necrolysis treatment. 61
31943788 2020
23
Association of carbamazepine-induced Stevens-Johnson syndrome/toxic epidermal necrolysis with the HLA-B75 serotype or HLA-B*15:21 allele in Filipino patients. 61
31896765 2020
24
Is there an association between Stevens-Johnson Syndrome and vaccination? A systematic review. 61
31713580 2020
25
Treatment for oral lesions in pediatric patients with Stevens-Johnson's syndrome: A case report and literature review. 61
31923328 2020
26
Characteristics of cutaneous adverse drug reactions caused by triple-combination drug therapy used for Helicobacter pylori eradication. 61
31912576 2020
27
Genetic Variants Associated with T-Cell Mediated Cutaneous Adverse Drug Reactions: A Prisma-Compliant Systematic Review - an EAACI Position Paper. 61
31899808 2020
28
Aetiopathogenesis of severe cutaneous adverse reactions (SCARs) in children: A 9-year experience in a tertiary care paediatric hospital setting. 61
31608511 2020
29
Pharmacokinetic and pharmacodynamic of the cognitive enhancer modafinil: Relevant clinical and forensic aspects. 61
31951804 2020
30
Erythema Multiforme Major in a Dog Treated with Intravenous Human Immunoglobulin and Immunosuppressive Therapy. 61
31961218 2020
31
Long-Term Effect of a Treatment Protocol for Acute Ocular Involvement in Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis. 61
31326519 2019
32
Late-onset Stevens-Johnson syndrome due to nivolumab use for hepatocellular carcinoma. 61
30782092 2019
33
[Cutaneous lichen planus following Stevens-Johnson syndrome: Wolf's isotopic response]. 61
31627928 2019
34
Stevens-Johnson syndrome/toxic epidermal necrolysis: a chronic condition? 61
31853947 2019
35
Ribociclib-Related Stevens-Johnson Syndrome: Oncologic Awareness, Case Report, and Literature Review. 61
31897340 2019
36
Retrospective study of 213 cases of Stevens-Johnson syndrome and toxic epidermal necrolysis from China. 61
31898979 2019
37
Mutant GNLY is linked to Stevens-Johnson syndrome and toxic epidermal necrolysis. 61
31642954 2019
38
Depletion of regulatory FoxP3+ T cells in the pathogenesis of Stevens-Johnson syndrome induced by mogamulizumab. 61
31334834 2019
39
Evaluating Dry Eye and Meibomian Gland Dysfunction With Meibography in Patients With Stevens-Johnson Syndrome. 61
31205158 2019
40
Accuracy of SCORTEN to predict the prognosis of Stevens-Johnson syndrome/toxic epidermal necrolysis: a systematic review and meta-analysis. 61
31912590 2019
41
Bronchiolitis obliterans as a long-term sequela of Stevens-Johnson syndrome and toxic epidermal necrolysis in children. 61
30908698 2019
42
The psychological impact of Stevens-Johnson syndrome and toxic epidermal necrolysis on patients' lives: a Critically Appraised Topic. 61
31792924 2019
43
Comment on 'Bronchiolitis obliterans as a long-term sequela of Stevens-Johnson syndrome and toxic epidermal necrolysis in children'. 61
31323139 2019
44
Timing of mucocutaneous symptoms and medication discontinuation in patients with Stevens-Johnson syndrome and toxic epidermal necrolysis in the United States. 61
31085266 2019
45
Severe Cutaneous Adverse Drug Reactions Associated with Allopurinol: An Analysis of Spontaneous Reporting System in Southern Italy. 61
31848905 2019
46
Contrast media and cutaneous reactions. Part 2: Delayed hypersensitivity reactions to iodinated contrast media. 61
31162717 2019
47
Case of fertility treatment-induced Stevens-Johnson syndrome with a severe ocular complication. 61
31489686 2019
48
Highlights from the 2nd Biennial Stevens Johnson syndrome symposium 2019: SJS/TEN from Science to Translation. 61
31785388 2019
49
Stevens-Johnson syndrome and toxic epidermal necrolysis: a retrospective descriptive study. 61
31166019 2019
50
Stevens Johnson syndrome and toxic epidermal necrolysis - an Australian analysis of treatment outcomes and mortality. 61
30632424 2019

Variations for Erythema Multiforme Major

Expression for Erythema Multiforme Major

Search GEO for disease gene expression data for Erythema Multiforme Major.

Pathways for Erythema Multiforme Major

GO Terms for Erythema Multiforme Major

Sources for Erythema Multiforme Major

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
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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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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