MCID: MGS001
MIFTS: 43

Megaesophagus

Categories: Gastrointestinal diseases

Aliases & Classifications for Megaesophagus

MalaCards integrated aliases for Megaesophagus:

Name: Megaesophagus 12 15 71
Esophageal Achalasia 43 71

Classifications:



External Ids:

Disease Ontology 12 DOID:13186
MeSH 43 D004931
NCIt 49 C34811
SNOMED-CT 67 70667005
UMLS 71 C0014848 C0025164

Summaries for Megaesophagus

MalaCards based summary : Megaesophagus, also known as esophageal achalasia, is related to barrett esophagus and in situ carcinoma. An important gene associated with Megaesophagus is FHIT (Fragile Histidine Triad Diadenosine Triphosphatase), and among its related pathways/superpathways are Pathways in cancer and Glioma. The drugs Methylene blue and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include lung, colon and myeloid, and related phenotypes are digestive/alimentary and integument

Wikipedia : 74 Megasophagus, also known as esophageal dilatation, is a disorder of the esophagus in humans and other... more...

Related Diseases for Megaesophagus

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

(show top 50) (show all 302)
# Related Disease Score Top Affiliating Genes
1 barrett esophagus 30.3 TP53 MYC FHIT CDKN2A
2 in situ carcinoma 30.1 TP53 MYC CDKN2A
3 gastric adenocarcinoma 29.7 VIP TP53 MYC FHIT FGFR1 CDKN2A
4 obsolete: familial esophageal achalasia 12.4
5 achalasia, familial esophageal 12.3
6 achalasia 10.8
7 chagas disease 10.8
8 dysphagia 10.7
9 megacolon 10.6
10 esophagitis 10.6
11 vulvar intraepithelial neoplasia 10.5 TP53 CDKN2A
12 ovarian seromucinous carcinoma 10.5 TP53 CDKN2A
13 esophagus verrucous carcinoma 10.5 TP53 CDKN2A
14 spitz nevus 10.5 TP53 CDKN2A
15 primary cutaneous diffuse large b-cell lymphoma, leg type 10.4 MYC CDKN2A
16 anal carcinoma in situ 10.4 TP53 MYC
17 chronic cervicitis 10.4 TP53 CDKN2A
18 b cell prolymphocytic leukemia 10.4 TP53 MYC
19 frontal lobe neoplasm 10.4 TP53 MYC
20 oral leukoplakia 10.4 TP53 CDKN2A
21 thyroid lymphoma 10.4 TP53 CDKN2A
22 dedifferentiated liposarcoma 10.4 TP53 CDKN2A
23 adult malignant schwannoma 10.4 TP53 CDKN2A
24 keratinizing squamous cell carcinoma 10.4 TP53 CDKN2A
25 spinal cord oligodendroglioma 10.4 TP53 FGFR1
26 plasmablastic lymphoma 10.4 MYC CDKN2A
27 esophageal cancer 10.4
28 cervical mucinous adenocarcinoma 10.4 TP53 CDKN2A
29 keratocystic odontogenic tumor 10.4 TP53 FHIT
30 adult astrocytic tumour 10.4 TP53 CDKN2A
31 bladder clear cell adenocarcinoma 10.4 TP53 CDKN2A
32 aspiration pneumonia 10.4
33 vulva squamous cell carcinoma 10.3 TP53 CDKN2A
34 urethra clear cell adenocarcinoma 10.3 TP53 CDKN2A
35 vaginal cancer 10.3 TP53 CDKN2A
36 gastroesophageal reflux 10.3
37 myasthenia gravis 10.3
38 uterus carcinoma in situ 10.3 TP53 FHIT CDKN2A
39 bone squamous cell carcinoma 10.3 TP53 CDKN2A
40 cervix uteri carcinoma in situ 10.3 TP53 FHIT CDKN2A
41 barrett's adenocarcinoma 10.3 TP53 FHIT CDKN2A
42 lung benign neoplasm 10.3 TP53 FHIT CDKN2A
43 oral cancer 10.3 TP53 FHIT CDKN2A
44 low-grade astrocytoma 10.3 TP53 CDKN2A
45 familial retinoblastoma 10.3 TP53 CDKN2A
46 cervix carcinoma 10.3 TP53 FHIT CDKN2A
47 hernia, hiatus 10.3
48 esophageal disease 10.3
49 supratentorial cancer 10.3 TP53 MYC CDKN2A
50 laryngeal squamous cell carcinoma 10.3 TP53 FHIT CDKN2A

Comorbidity relations with Megaesophagus via Phenotypic Disease Network (PDN):


Active Peptic Ulcer Disease Acute Cystitis
Deficiency Anemia Dyskinesia of Esophagus
Esophageal Disease Esophagitis
Heart Disease Protein-Energy Malnutrition
Swallowing Disorders

Graphical network of the top 20 diseases related to Megaesophagus:



Diseases related to Megaesophagus

Symptoms & Phenotypes for Megaesophagus

MGI Mouse Phenotypes related to Megaesophagus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.76 CDKN2A CDON COL19A1 FGFR1 FHIT FZD4
2 integument MP:0010771 9.61 CD8A CDKN2A COL19A1 FGFR1 FHIT FZD4
3 mortality/aging MP:0010768 9.36 CD8A CDKN2A CDON COL19A1 FGFR1 FHIT

Drugs & Therapeutics for Megaesophagus

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

(show top 50) (show all 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylene blue Approved, Investigational Phase 4 61-73-4
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
4
Remifentanil Approved Phase 4 132875-61-7 60815
5
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
6 Neuromuscular Agents Phase 4
7 Hormone Antagonists Phase 4
8 Anti-Inflammatory Agents Phase 4
9 glucocorticoids Phase 4
10 Antineoplastic Agents, Hormonal Phase 4
11 Hormones Phase 4
12 Narcotics Phase 4
13 Analgesics, Opioid Phase 4
14 Anesthetics, General Phase 4
15 Adjuvants, Anesthesia Phase 4
16 Anesthetics, Intravenous Phase 4
17 Central Nervous System Depressants Phase 4
18 Analgesics Phase 4
19
Ceftazidime Approved Phase 2, Phase 3 72558-82-8, 78439-06-2 5481173
20 Tin Fluorides Phase 3
21 Antitubercular Agents Phase 3
22 Cephalosporins Phase 3
23 beta-Lactams Phase 3
24 Lactams Phase 3
25 Antibiotics, Antitubercular Phase 2, Phase 3
26 Anti-Bacterial Agents Phase 2, Phase 3
27 Anti-Infective Agents Phase 2, Phase 3
28 Pharmaceutical Solutions Phase 2, Phase 3
29
Nitric Oxide Approved Phase 1, Phase 2 10102-43-9 145068
30 Cola Phase 2
31
Cefazolin Approved 25953-19-9 656510 33255
32
Clavulanate Approved, Vet_approved 58001-44-8 5280980
33
Amoxicillin Approved, Vet_approved 26787-78-0 33613
34
tannic acid Approved 1401-55-4
35
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
36
Mirabegron Approved Early Phase 1 223673-61-8 9865528
37
Formaldehyde Approved, Vet_approved 50-00-0 712
38
Ropivacaine Approved 84057-95-4 71273 175805
39
Dopamine Approved 51-61-6, 62-31-7 681
40
Esomeprazole Approved, Investigational 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
41
Domperidone Approved, Investigational, Vet_approved 57808-66-9 3151
42 Lugol's solution
43 Hypnotics and Sedatives
44 Anesthetics, Local
45 Adrenergic Agonists Early Phase 1
46 Adrenergic beta-3 Receptor Agonists Early Phase 1
47 Adrenergic beta-Agonists Early Phase 1
48 Adrenergic Agents Early Phase 1
49 Liver Extracts
50 Gentamicins

Interventional clinical trials:

(show top 50) (show all 89)
# Name Status NCT ID Phase Drugs
1 Personalized Peroral Endoscopic Myotomy for Achalasia Unknown status NCT01570621 Phase 4
2 A Pilot Study Assessing the Efficacy of Steroids in the Treatment of Achalasia Enrolling by invitation NCT01903486 Phase 4 Apo-Prednisone Cordorol, Detasone - Prednisone
3 Prospective Single-Blinded Randomized Controlled Trial Comparing Botox or Botox With Esophageal Dilation in Patients With Achalasia Enrolling by invitation NCT03654066 Phase 4 Botulinum toxin type A
4 Influence of Intraoperative Opioids (Oxycodone/Fentanyl) Usage on the Post-operative Pain Management of Peroral Endoscopic Myotomy (POEM) Not yet recruiting NCT04177342 Phase 4 Fentanyl;Oxycodone
5 Peroral Endoscopic Myotomy for Primary Esophageal Achalasia Completed NCT01560559 Phase 3
6 Randomized Control Study Comparing Single-Versus Multiple-dose Antimicrobial Prophylaxis for Peroral Endoscopic Myotomy in Achalasia Recruiting NCT03784365 Phase 3 3Rd Generation Cephalosporins
7 Single- Versus Multiple-dose Antimicrobial Prophylaxis for The Prevention of Infectious Complications Associated With Peroral Endoscopic Myotomy(POEM) for Achalasia: A Triple-Blind, Randomized Controlled, Non-Inferiority Trial Active, not recruiting NCT03404739 Phase 2, Phase 3 Saline Solution;Ceftazidime
8 Per-Oral Endoscopic Myotomy (P.O.E.M.) for Treatment of Primary Esophageal Motility Disorders Unknown status NCT01524471 Phase 2
9 Endoscopic Submucosal Tunnel Dissection for Endolumenal Partial Myotomy of the Lower Esophageal Sphincter for Achalasia Unknown status NCT01302288 Phase 2
10 Efficacy of Dark Chocolate in Achalasia Patients: Placebo-Controlled Study Unknown status NCT00790465 Phase 1, Phase 2
11 Prospective Study on the Feasibility and Results of the Treatment of Idiopathic Achalasia With the POEM (Per Oral Endoscopic Myotomy) Technique Completed NCT02259283 Phase 2
12 Peroral Endoscopic Myotomy (POEM) for the Treatment of Achalasia Completed NCT02073578 Phase 1, Phase 2
13 A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel-group, Single-dose, Phase 2a Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of IW-1701 in Patients With Achalasia Completed NCT02931565 Phase 2 IW-1701;Matching Placebo
14 Randomized Study to Compare Pneumatic Dilatation With Surgical Myotomy for Treatment of Achalasia - Long Term Follow up Completed NCT02086669 Phase 2
15 Endoscopic Esophageal Myotomy for the Treatment of Achalasia Completed NCT01873300 Phase 1, Phase 2
16 Clinical Impact of Peroral Endoscopic Myotomy for Esophageal Achalasia Unknown status NCT01649843
17 Peroral Endoscopic Remyotomy for Failed Heller Myotomy Unknown status NCT01637311
18 Peroral Endoscopic Myotomy Versus Pneumatic Dilation for Esophageal Achalasia: a Prospective Randomized Controlled Trial Unknown status NCT01768091
19 Safety,Efficacy and Cost-effectiveness of Snare-assisted POEM for Treatment of Esophageal Achalasia Unknown status NCT02999451
20 POEM a Novel Endoscopic Treatment for Achalasia Unknown status NCT01512719
21 Peroral Endoscopic Myotomy for Esophageal Achalasia: Randomized Comparison of Water-Jet Assisted Versus Conventional Dissection Technique Unknown status NCT01742494
22 Laparoscopy Heller Myotomy With Fundoplication Associated Versus Peroral Endoscopic Myotomy (POEM) Unknown status NCT02138643
23 Short and Long Term Outcomes of Heller Myotomy Unknown status NCT00519220
24 Bacteremia and Procalcitonin Levels in Peroral Endoscopic Myotomy for Achalasia Unknown status NCT01750385 no antibiotic prophylaxis;second-generation cephalosporin
25 Screening for Dysplasia in Longstanding Idiopathic Achalasia: a Prospective Study Unknown status NCT02010983
26 Endoscopic Submucosal Tunnel Dissection for Endoluminal Partial Myotomy of the Lower Esophageal Sphincter in Patients With Spastic Esophageal Disorders Such as Achalasia Unknown status NCT02425033
27 To Assess the Feasibility of Same Day Discharge Following a POEM Procedure Unknown status NCT02572193
28 A Randomized Comparison of Laparoscopic Myotomy and Pneumatic Dilatation for Achalasia Unknown status NCT00188344
29 Efficacy and Safety Study of Hot Water Drinking Therapy in Achalasia Patients Unknown status NCT01863966
30 A Prospective Trial Comparing POEM to Pneumatic Dilatation for Treatment of Achalasia Cardia Unknown status NCT02025790
31 Clinical Outcomes of Peroral Endoscopic Myotomy for Esophageal Outflow Obstruction Unknown status NCT02989883
32 Double Blind Randomized Clinical Trial Comparing Short Versus Long Esophageal Myotomy in Per Oral Endoscopic Myotomy for Achalasia Cardia Unknown status NCT03186248
33 Endoscopic Submucosal Tunnel Dissection Versus Video-assisted Thoracoscopic Surgery for Upper Gastrointestinal Submucosal Tumors: a Prospective Randomized Controlled Trial Unknown status NCT01768104
34 Achalasia; Mechanisms Underlying Persistent Symptoms After Treatment Unknown status NCT02055469
35 Peroral Endoscopic Myotomy (POEM) For The Treatment Of Achalasia: A Retrospective And Prospective Multicenter Registry. Unknown status NCT02162589
36 Randomized Study of Botulinum Toxin Type A for Achalasia Completed NCT00004416 botulinum toxin type A
37 Randomized Prospective Trial of Laparoscopic Heller Myotomy and Partial Fundoplication for the Treatment of Idiopathic Esophageal Achalasia Completed NCT00490750
38 Gastroesophageal Reflux in Patients With Achalasia Completed NCT00519441
39 Prospective Study on the Feasibility and Effectiveness of Per-Oral Endoscopic Myotomy (P.O.E.M.) for Treatment of Primary Esophageal Motility Disorders Completed NCT01525732
40 To Find Out the Genetic Relationship Between the Early-Onset Achalasia and AAAS Gene Completed NCT00856921
41 Evaluation of a Novel Endoscopic Treatment for Achalasia: Per-oral Endoscopic Esophagomyotomy (POEM) Completed NCT01770249
42 Peroral Endoscopic Myotomy (POEM) for Esophageal Motility in Patients With a Clinical Diagnosis of Achalasia Completed NCT02314741
43 Endoscopic Submucosal Tunnel Dissection for Endoluminal Partial Myotomy of the Lower Esophageal Sphincter for Achalasia Completed NCT01399476
44 Peroral Endoscopic Myotomy (POEM) for Treatment of Achalasia Completed NCT01584635
45 Impact of Antibiotic Prophylaxis and Conditioning Modalities in Per Oral Endoscopic Myotomy for Esophageal Motor Disorders Completed NCT03944863 Antibiotics
46 Prospective Evaluation of a New Approach to Perform an Esophageal Myotomy: the Transesophageal Submucosa Approach Completed NCT02773589
47 A Prospective Randomized Trial Comparing Two Reconstructive Operation Techniques After Myotomy of Achalasia. Comparing Toupet Versus DOR. Completed NCT01933373
48 Comparison of Outcome and Complications of Anterior Versus Posterior Myotomy in Per-oral Endoscopic Myotomy (POEM) Endoscopic Procedure for Treatment of Achalasia: Randomized Single Blinded Clinical Trial Completed NCT02454335
49 Ano-rectal 3D High Resolution Manometry: Normal Values and Comparison With Ultrasound Examination in Healthy Volunteers, Patients With Fecal Incontinence and Patients With Constipation Completed NCT01710579
50 Risk of Microbial Translocation in Patients Undergoing Per-Oral Endoscopic Myotomy (POEM) for Achalasia: Antibiotic Prophylaxis or Short-therapy Completed NCT03587337

Search NIH Clinical Center for Megaesophagus

Cochrane evidence based reviews: esophageal achalasia

Genetic Tests for Megaesophagus

Anatomical Context for Megaesophagus

MalaCards organs/tissues related to Megaesophagus:

40
Lung, Colon, Myeloid, Cervix, B Cells, Heart, Salivary Gland

Publications for Megaesophagus

Articles related to Megaesophagus:

(show top 50) (show all 1460)
# Title Authors PMID Year
1
Clinical Usefulness of Endoscopy, Barium Fluoroscopy, and Chest Computed Tomography for the Correct Diagnosis of Achalasia. 61
31588086 2020
2
Vascular ring anomalies in cats: 20 cases (2000-2018). 61
31598999 2020
3
Dor versus Toupet fundoplication after Laparoscopic Heller Myotomy: Systematic review and Bayesian meta-analysis of randomized controlled trials. 61
31031056 2020
4
Identification of human herpes virus 1 encoded microRNAs in biopsy samples of lower esophageal sphincter muscle during peroral endoscopic myotomy for esophageal achalasia. 61
31325192 2020
5
End-stage Esophageal Achalasia as Incidental Finding After Thoracic Trauma. 61
32005327 2020
6
Multicenter collaborative retrospective evaluation of peroral endoscopic myotomy for esophageal achalasia: analysis of data from more than 1300 patients at eight facilities in Japan. 61
31183791 2020
7
Megaesophagus Is a Major Pathological Condition in Rats With a Large Deletion in the Rbm20 Gene. 61
31221019 2020
8
Canine Nonstructural Megaesophagus as a Clinical Sign of Potential Neurological Disease: 99 Cases. 61
31715113 2020
9
The Treatment of Esophageal Achalasia: At the Intersection Between Innovation and Patient's Care. 61
31895620 2020
10
Poem Versus Laparoscopic Heller Myotomy in the Treatment of Esophageal Achalasia: A Case-Control Study from Two High Volume Centers Using the Propensity Score. 61
31848870 2019
11
Esophageal achalasia after Roux-en-Y gastric bypass for morbid obesity. 61
31691117 2019
12
Suprahyoid Muscle Activity in Patients with Chagasic Megaesophagus. 61
31827221 2019
13
Distal esophageal sphincter achalasia in a Labrador retriever dog with polypoid gastric mucosal hyperplasia and pyloric stenosis. 61
31692575 2019
14
Extended Esophageal Achalasia. 61
31735799 2019
15
Surgical Management of Esophageal Achalasia in Pediatrics: A Systematic Review. 61
31600801 2019
16
Management of Esophageal Achalasia in Quebec. 61
31636782 2019
17
Pulmonary vein isolation in a patient with achalasia and megaesophagus. 61
31700797 2019
18
Heller myotomy is the optimal index procedure for esophageal achalasia in adolescents and young adults. 61
30552502 2019
19
Videofluoroscopic swallow study features of lower esophageal sphincter achalasia-like syndrome in dogs. 61
31381208 2019
20
Hereditary β-mannosidosis in a dog: Clinicopathological and molecular genetic characterization. 61
31439511 2019
21
POEM in Latin America: The Rise of a New Standard. 61
30702485 2019
22
Aerodigestive disorders in dogs evaluated for cough using respiratory fluoroscopy and videofluoroscopic swallow studies. 61
31492390 2019
23
Chagasic Megaesophagus-Associated Carcinoma: Clinical Pattern and Outcomes. 61
31393754 2019
24
Gastric myotomy length affects severity but not rate of post-procedure reflux: 3-year follow-up of a prospective randomized controlled trial of double-scope per-oral endoscopic myotomy (POEM) for esophageal achalasia. 61
31463720 2019
25
Anesthesia for peroral endoscopic myotomy in Japan. 61
30994477 2019
26
Beta-sarcoglycan-deficient muscular dystrophy presenting as chronic bronchopneumonia in a young cat. 61
31308955 2019
27
Signs consistent with syringobulbia may be detected in dogs undergoing MRI. 61
30887625 2019
28
Esophageal dysmotility: An intrinsic feature of megacystis, microcolon, hypoperistalsis syndrome (MMIHS). 61
30257810 2019
29
Technique for Evaluation of Gravity-Assisted Esophageal Transit Characteristics in Dogs with Megaesophagus. 61
31099601 2019
30
Retrospective analysis of esophageal imaging features in brachycephalic versus non-brachycephalic dogs based on videofluoroscopic swallowing studies. 61
31218762 2019
31
Systematic Review and Bayesian Network Meta-Analysis Comparing Laparoscopic Heller Myotomy, Pneumatic Dilatation, and Peroral Endoscopic Myotomy for Esophageal Achalasia. 61
31364910 2019
32
Massive esophageal bleeding in long-standing achalasia complicated by esophageal carcinoma and aspirin-induced stasis ulcer: Case report. 61
31348265 2019
33
Validation of new Japanese classification system for esophageal achalasia. 61
30771041 2019
34
Resection of the Gastroesophageal Junction and Roux-en-Y Reconstruction as a New Alternative for the Treatment of Recurrent Achalasia: Outcomes in a Short Series of Patients. 61
31161951 2019
35
Laparoscopic Heller Myotomy: A Fundoplication Is Necessary to Control Gastroesophageal Reflux. 61
31009312 2019
36
Achalasia With Tortuous Megaesophagus. 61
31200875 2019
37
Peroral Endoscopic Myotomy with the Stag Beetle Knife (SB Knife): Feasibility and Follow-Up. 61
31081498 2019
38
Incidence and risk factors for esophageal cancer following achalasia treatment: national population-based case-control study. 61
30809653 2019
39
The treatment of achalasia patients with esophageal varices: an international study. 61
31065374 2019
40
Mechanical dilation, botulinum toxin A injection, and surgical myotomy with fundoplication for treatment of lower esophageal sphincter achalasia-like syndrome in dogs. 61
30968469 2019
41
Case of impressive megaesophagus in medical intensive care unit. 61
31068358 2019
42
Management of Esophageal Achalasia after Roux-en-Y Gastric Bypass: Narrative Review of the Literature. 61
30778843 2019
43
[PER-ORAL ENDOSCOPIC MYOTOMY - SUMMARY OF FIVE YEARS EXPERIENCE]. 61
31032552 2019
44
Survey of owners on population characteristics, diagnosis, and environmental, health, and disease associations in dogs with megaesophagus. 61
30543946 2019
45
The assessment of the esophageal motility of children with esophageal disorders by the detailed observation of the pH-multichannel intraluminal impedance waveform and baseline impedance: screening test potential. 61
30145680 2019
46
Agreement between upper endoscopy and esophagography in the diagnosis of megaesophagus in Chagas disease. 61
30843966 2019
47
Clinical features and prognosis of canine megaesophagus in Japan. 61
30626762 2019
48
Reduced risk of pneumonia after changes in anesthetic procedures for dogs receiving repeated anesthesia for radiation treatment. 61
30375098 2019
49
Corrigendum to: "Modern Management of Esophageal Achalasia: From Pathophysiology to Treatment," Curr Prob Surg 2018; 55 (1):1-38. 61
30777151 2019
50
Pneumatic dilation versus laparoscopic Heller's myotomy in the treatment of achalasia: systematic review and meta-analysis based on randomized controlled trials. 61
30380036 2019

Variations for Megaesophagus

Expression for Megaesophagus

Search GEO for disease gene expression data for Megaesophagus.

Pathways for Megaesophagus

GO Terms for Megaesophagus

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

# Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.33 TP53 MYC CDKN2A
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.13 YES1 FGFR1 CD8A
3 replicative senescence GO:0090399 8.62 TP53 CDKN2A

Sources for Megaesophagus

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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