MCID: ACH005
MIFTS: 51

Achalasia

Categories: Rare diseases, Gastrointestinal diseases, Cardiovascular diseases

Aliases & Classifications for Achalasia

MalaCards integrated aliases for Achalasia:

Name: Achalasia 12 76 29 55 6 15 73
Cardiospasm 12 76 53
Hypertensive Lower Esophageal Sphincter 12 73
Esophageal Achalasia 12 73
Lack of Reflex Relaxation of Lower Oesophageal Sphincter 12
Achalasia of Esophagus 12
Achalasia of Cardia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:9164
ICD10 33 K22.0
ICD9CM 35 530.0
MeSH 44 D004931
NCIt 50 C84699

Summaries for Achalasia

Disease Ontology : 12 An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.

MalaCards based summary : Achalasia, also known as cardiospasm, is related to idiopathic achalasia and achalasia-addisonianism-alacrima syndrome. An important gene associated with Achalasia is AAAS (Aladin WD Repeat Nucleoporin), and among its related pathways/superpathways are Neuroscience and G alpha (s) signalling events. The drugs Methylene blue and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, lung and bone, and related phenotypes are behavior/neurological and cardiovascular system

Wikipedia : 76 Esophageal achalasia, often called simple achalasia, is a failure of smooth muscle fibers to relax,... more...

Related Diseases for Achalasia

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

(show top 50) (show all 205)
# Related Disease Score Top Affiliating Genes
1 idiopathic achalasia 33.9 AAAS VIPR1
2 achalasia-addisonianism-alacrima syndrome 33.7 AAAS MC2R TRAPPC11
3 megaesophagus 32.8 TP53 VIP
4 hirschsprung disease 1 31.6 NOS1 RET VIP
5 hypertrophic pyloric stenosis 30.1 NOS1 RET
6 small cell carcinoma 29.2 ENO2 KIT TP53
7 achalasia, familial esophageal 12.5
8 achalasia-microcephaly syndrome 12.4
9 moyamoya disease 6 with achalasia 12.3
10 alacrima, achalasia, and mental retardation syndrome 12.3
11 deafness, congenital, with vitiligo and achalasia 12.2
12 mental retardation, x-linked, syndromic 17 11.8
13 jackhammer esophagus 11.2
14 sjogren syndrome 10.8
15 posterior column ataxia with retinitis pigmentosa 10.8
16 gmppa-cdg 10.8
17 esophagitis 10.7
18 cluster headache 10.7 NOS1 VIP
19 urticaria pigmentosa 10.6 KIT VIP
20 acute thyroiditis 10.6 ENO2 NOS1
21 cutaneous ganglioneuroma 10.5 ENO2 KIT
22 gastric leiomyosarcoma 10.5 ENO2 KIT
23 plexiform schwannoma 10.5 ENO2 KIT
24 conventional fibrosarcoma 10.5 ENO2 KIT
25 multiple mucosal neuroma 10.5 ENO2 RET
26 endometrial small cell carcinoma 10.5 ENO2 KIT
27 rete testis adenocarcinoma 10.5 ENO2 KIT
28 somatostatinoma 10.5 ENO2 VIP
29 angiomyoma 10.4 ENO2 KIT
30 sarcomatoid squamous cell skin carcinoma 10.4 KIT TP53
31 heart sarcoma 10.4 ENO2 KIT
32 rete testis neoplasm 10.4 ENO2 KIT
33 uterine body mixed cancer 10.4 KIT TP53
34 diffuse pulmonary fibrosis 10.4 ENO2 VIP
35 pleomorphic carcinoma 10.4 KIT TP53
36 adenosarcoma 10.3 KIT TP53
37 ganglioneuroblastoma 10.3 ENO2 VIP
38 adenosquamous cell lung carcinoma 10.3 ENO2 RET
39 atypical follicular adenoma 10.3 ENO2 TP53
40 central nervous system primitive neuroectodermal neoplasm 10.3 ENO2 TP53
41 cerebellum cancer 10.3 ENO2 TP53
42 cerebral neuroblastoma 10.3 ENO2 TP53
43 pleomorphic adenoma carcinoma 10.3 ENO2 TP53
44 necrotizing sialometaplasia 10.3 KIT TP53
45 cerebral ventricle cancer 10.3 ENO2 TP53
46 cerebrum cancer 10.3 ENO2 TP53
47 dysgerminoma of ovary 10.3 ENO2 KIT
48 supratentorial cancer 10.3 ENO2 TP53
49 embryonal sarcoma 10.3 KIT TP53
50 large cell neuroendocrine carcinoma 10.3 ENO2 KIT

Graphical network of the top 20 diseases related to Achalasia:



Diseases related to Achalasia

Symptoms & Phenotypes for Achalasia

MGI Mouse Phenotypes related to Achalasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.09 ENO2 RET KIT TP53 MC2R VIP
2 cardiovascular system MP:0005385 10.01 NOS1 RET GUCY1A1 KIT TP53 MC2R
3 endocrine/exocrine gland MP:0005379 9.92 RET KIT TP53 MC2R VIP AAAS
4 growth/size/body region MP:0005378 9.86 AAAS NOS1 ENO2 RET KIT TP53
5 digestive/alimentary MP:0005381 9.85 NOS1 RET KIT TP53 AAAS VIPR1
6 homeostasis/metabolism MP:0005376 9.81 AAAS NOS1 GUCY1A1 RET KIT TP53
7 nervous system MP:0003631 9.56 AAAS NOS1 ENO2 GUCY1A1 RET KIT
8 respiratory system MP:0005388 9.17 ENO2 RET GUCY1A1 KIT TP53 VIP

Drugs & Therapeutics for Achalasia

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

(show top 50) (show all 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylene blue Approved, Investigational Phase 4,Not Applicable 61-73-4
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3 glucocorticoids Phase 4
4 Hormone Antagonists Phase 4
5 Hormones Phase 4
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
7 Anti-Inflammatory Agents Phase 4
8 Antineoplastic Agents, Hormonal Phase 4
9
Ceftazidime Approved Phase 2, Phase 3 78439-06-2, 72558-82-8 5481173
10 Anesthetics Phase 3,Not Applicable
11 Anti-Bacterial Agents Phase 2, Phase 3,Not Applicable
12 Antibiotics, Antitubercular Phase 2, Phase 3,Not Applicable
13 Anti-Infective Agents Phase 2, Phase 3,Not Applicable
14 Tin Fluorides Phase 3
15 Pharmaceutical Solutions Phase 2, Phase 3,Not Applicable
16
Menthol Approved Phase 1, Phase 2,Not Applicable 2216-51-5 16666
17
Nitric Oxide Approved Phase 1, Phase 2 10102-43-9 145068 160954
18
Naloxegol Approved Phase 2 854601-70-0
19 Peripheral Nervous System Agents Phase 2,Not Applicable
20 Narcotic Antagonists Phase 2
21 Narcotics Phase 2
22 Cola Nutraceutical Phase 2
23
Salmon Calcitonin Approved, Investigational Not Applicable 47931-85-1 16129616
24
Acetylcholine Approved Not Applicable 51-84-3 187
25
Diphenhydramine Approved, Investigational Not Applicable 147-24-0, 58-73-1 3100
26
Histamine Approved, Investigational Not Applicable 75614-87-8, 51-45-6 774
27
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
28
Promethazine Approved, Investigational Not Applicable 60-87-7 4927
29
Ondansetron Approved Not Applicable 99614-02-5 4595
30
Amyl Nitrite Approved Not Applicable 8017-89-8, 463-04-7 10026
31 Mirabegron Approved Early Phase 1 223673-61-8 9865528
32
Esomeprazole Approved, Investigational Not Applicable 161796-78-7, 119141-88-7 4594 9579578
33
Dopamine Approved Not Applicable 51-61-6, 62-31-7 681
34
Domperidone Approved, Investigational, Vet_approved Not Applicable 57808-66-9 3151
35 tannic acid Approved, Nutraceutical Not Applicable
36
Calcitonin gene-related peptide Investigational Not Applicable 83652-28-2
37 calcitonin Not Applicable
38 Analgesics Not Applicable
39 Cephalosporins Not Applicable
40 Hemostatics Not Applicable
41 Anesthetics, Local Not Applicable
42 Hypnotics and Sedatives Not Applicable
43 Antitubercular Agents Not Applicable
44 Bone Density Conservation Agents Not Applicable
45
Histamine Phosphate Not Applicable 51-74-1 65513
46 abobotulinumtoxinA Not Applicable
47 Central Nervous System Depressants Not Applicable
48 Cholinergic Agents Not Applicable
49 Serotonin Agents Not Applicable
50 Serotonin Antagonists Not Applicable

Interventional clinical trials:

(show top 50) (show all 87)
# Name Status NCT ID Phase Drugs
1 Personalized Peroral Endoscopic Myotomy for Achalasia Unknown status NCT01570621 Phase 4
2 Assessing the Efficacy of Steroid Treatment of Achalasia Enrolling by invitation NCT01903486 Phase 4 Apo-Prednisone Cordorol, Detasone - Prednisone
3 Comparison of Esophageal and Anorectal Manometry Catheters Terminated NCT00204763 Phase 4
4 Peroral Endoscopic Myotomy for Primary Esophageal Achalasia Completed NCT01560559 Phase 3
5 Single- Versus Multiple-dose Antimicrobial Prophylaxis for The Prevention of Infectious Complications Associated With Peroral Endoscopic Myotomy(POEM) for Achalasia Active, not recruiting NCT03404739 Phase 2, Phase 3 Saline Solution;Ceftazidime
6 Efficacy of Dark Chocolate in Achalasia Patients Unknown status NCT00790465 Phase 1, Phase 2
7 Endolumenal Partial Myotomy for the Treatment of Esophageal Achalasia Unknown status NCT01302288 Phase 2
8 Prospective Study on the Feasibility and Effectiveness of Per-Oral Endoscopic Myotomy (P.O.E.M.) for Treatment of Primary Esophageal Motility Disorders Unknown status NCT01524458 Phase 1, Phase 2
9 Endolumenal Partial Myotomy for Esophageal Motility Disorders Unknown status NCT01302301 Phase 2
10 Per-Oral Endoscopic Myotomy (P.O.E.M.) for Treatment of Primary Esophageal Motility Disorders Unknown status NCT01524471 Phase 2
11 Prospective Study on the Feasibility and Results of POEM in Idiopathic Achalasia Completed NCT02259283 Phase 2
12 Peroral Endoscopic Myotomy (POEM) for the Treatment of Achalasia Completed NCT02073578 Phase 1, Phase 2
13 Pneumatic Dilatation or Surgical Myotomy for Achalasia Completed NCT02086669 Phase 2
14 Endoscopic Myotomy for the Treatment of Achalasia (Motility Disorder) of the Esophagus - POEM Procedure Completed NCT01873300 Phase 1, Phase 2
15 Study of IW-1701, A Stimulator of Soluble Guanylate Cyclase (sGC), in Patients With Type I or II Achalasia Recruiting NCT02931565 Phase 2 IW-1701;Matching Placebo
16 Movantik for Opioid-Related Esophageal Disorders Recruiting NCT02998606 Phase 2 Naloxegol;Placebo Oral Capsule
17 Evaluation of the Safety and Effectiveness of Tailored Transoral Incisionless Fundoplication (TIF) Using EsophyX for the Treatment of GERD Withdrawn NCT01025739 Phase 2
18 Hot Water Drinking Therapy in Achalasia Unknown status NCT01863966 Not Applicable
19 Clinical Impact of Peroral Endoscopic Myotomy for Esophageal Achalasia Unknown status NCT01649843 Not Applicable
20 Achalasia: Mechanisms Underlying Treatment Failure Unknown status NCT02055469
21 POEM Versus Pneumatic Dilatation in Achalasia Cardia Unknown status NCT02025790 Not Applicable
22 POEM vs. Pneumatic Dilation for Esophageal Achalasia Unknown status NCT01768091 Not Applicable
23 Outcome of Symptoms in Patients Undergoing a Heller Myotomy Unknown status NCT00519220
24 Comparison Study of Conventional POEM and Hybrid POEM for Esophageal Achalasia Unknown status NCT01742494 Not Applicable
25 Bacteremia and Procalcitonin Levels in Peroral Endoscopic Myotomy for Achalasia Unknown status NCT01750385 Not Applicable no antibiotic prophylaxis;second-generation cephalosporin
26 A Randomized Comparison of Laparoscopic Myotomy and Pneumatic Dilatation for Achalasia Unknown status NCT00188344 Not Applicable
27 POEM- Peroral Endoscopic Myotomy for Esophageal Motility Disorders Unknown status NCT01512719 Not Applicable
28 Peroral Endoscopic Remyotomy for Failed Heller Myotomy Unknown status NCT01637311 Not Applicable
29 Reversibility of Dysmotility After Gastric Banding Unknown status NCT00680030
30 Pyloric Sphincter Pressure and Geometry Assessment Using EndoFlip Unknown status NCT02446119
31 Functional Endoscopy in Neurogenic Dysphagia Unknown status NCT01995929
32 The Role That Peroral Endoscopic Myotomy (POEM) Could Play in the Treatment of Achalasia Completed NCT01584635 Not Applicable
33 Endoscopic Peroral Myotomy for Treatment of Achalasia Completed NCT01405469 Not Applicable
34 A Clinical Study of Per Oral Endoscopic Myotomy (POEM) in Patients Suffering From Achalasia Completed NCT01692106 Not Applicable
35 Peroral Endoscopic Myotomy (POEM) for Esophageal Motility Completed NCT02314741 Not Applicable
36 Evaluation of a Novel Endoscopic Treatment for Achalasia Completed NCT01770249 Not Applicable
37 Genetic Evaluation of AAAS Gene in Early-Onset Achalasia and Alacrima Patients Completed NCT00856921
38 A Prospective Study Comparing Two Reconstructive Operation Techniques After Myotomy of Achalasia Completed NCT01933373 Not Applicable
39 Do Patients Who Have Had Surgery for Achalasia Suffer From Reflux Completed NCT00519441 Not Applicable
40 Efficacy & Safety of Submucosal Endoscopic Myotomy With Mucosal Flap (SEMF) in the Treatment of Patients With Achalasia Completed NCT01438398 Not Applicable
41 POEM Anterior Versus Posterior Approach Completed NCT02454335 Not Applicable
42 Laparoscopic Dor Versus Toupet Fundoplication for the Treatment of Idiopathic Esophageal Achalasia Completed NCT00490750 Not Applicable
43 Randomized Study of Botulinum Toxin Type A for Achalasia Completed NCT00004416 Not Applicable botulinum toxin type A
44 Prospective Evaluation of a New Approach to Perform an Esophageal Myotomy: the Transesophageal Submucosa Approach Completed NCT02773589 Not Applicable
45 Per-Oral Endoscopic Myotomy (P.O.E.M.) for Treatment of Esophageal Motility Disorders Completed NCT01525732 Not Applicable
46 Per-Oral Endoscopic Esophagomyotomy (POEM) Completed NCT01635374 Not Applicable
47 SX ELLA Esophageal Degradable BD Stent System Completed NCT01337206 Not Applicable
48 Prevalence and Clinical Characteristics of Patients With Jackhammer Esophagus and Symptoms of Gastroesophageal Reflux Disease Completed NCT03347903
49 The Biologic Basis of Hernia Formation Completed NCT01099033
50 Reletex Versus Standard of Care Therapy for Post-Operative Nausea Control in Patients Undergoing Foregut Surgery Completed NCT01510379 Not Applicable IV ondansetron 4 mg q 6 hours for a total of 4 doses;IV promethazine 25 mg q 6 hours prn;Elixir promethazine 25 mg q 6 hours prn after discharge

Search NIH Clinical Center for Achalasia

Genetic Tests for Achalasia

Genetic tests related to Achalasia:

# Genetic test Affiliating Genes
1 Achalasia 29

Anatomical Context for Achalasia

MalaCards organs/tissues related to Achalasia:

41
Smooth Muscle, Lung, Bone, Heart, Testes, Adrenal Gland, Brain

Publications for Achalasia

Articles related to Achalasia:

(show top 50) (show all 875)
# Title Authors Year
1
Esophageal achalasia and pregnancy: own observations in 43 patients and a review of the literature. ( 29931525 )
2018
2
Esophagography in Patients With Esophageal Achalasia Diagnosed With High-resolution Esophageal Manometry. ( 29969858 )
2018
3
Impact of preoperative balloon dilatation on outcomes of laparoscopic surgery in young patients with esophageal achalasia. ( 29892807 )
2018
4
Dynamic lumen obstructing angulation in advanced sigmoid-type achalasia successfully treated by additional proximal curve myotomy. ( 29452435 )
2018
5
Preliminary study of 1940 nm thulium laser usage in peroral endoscopic myotomy for achalasia. ( 29342262 )
2018
6
A novel method of endoscopic-assisted esophageal clearance in advanced achalasia. ( 29344565 )
2018
7
Self-expandable metal stent placement in a child for treatment of achalasia after failed Heller myotomy. ( 29344561 )
2018
8
Anal Achalasia: The Rat Tail Gas Sign. ( 29913152 )
2018
9
Screening for dysplasia with Lugol chromoendoscopy in longstanding idiopathic achalasia. ( 29748564 )
2018
10
Gastrointestinal: A rare case of concomitant type III achalasia and chronic idiopathic intestinal pseudo-obstruction. ( 29469232 )
2018
11
EVALUATION OF ESOPHAGEAL ACHALASIA: FROM SYMPTOMS TO THE CHICAGO CLASSIFICATION. ( 29972404 )
2018
12
Incidence, morbidity and mortality of patients with achalasia in England: findings from a study of nationwide hospital and primary care data. ( 29925629 )
2018
13
Thoracoscopic oesophagectomy for end-stage achalasia. ( 29319022 )
2018
14
Achalasia Cardia in a Young Infant. ( 29340927 )
2018
15
Clinical factors and high-resolution manometry predicting response to surgery for achalasia in children. ( 29937012 )
2018
16
Whose patient is it? The path to multidisciplinary management of achalasia. ( 29907234 )
2018
17
Endoscopic pyloroplasty for adult hypertrophic pyloric stenosisA associated with esophageal achalasia. ( 29905182 )
2018
18
Per-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome. ( 29383495 )
2018
19
Achalasia with massive oesophageal dilation causing tracheomalacia and asthma symptoms. ( 29321968 )
2018
20
<i>Trypanosoma cruzi</i> Detection in Colombian Patients with a Diagnosis of Esophageal Achalasia. ( 29405099 )
2018
21
Esophageal achalasia: current diagnosis and treatment. ( 29804476 )
2018
22
The argument for POEM in treatment of achalasia. ( 29366317 )
2018
23
Weight loss in achalasia is determined by its phenotype. ( 29788157 )
2018
24
S093: pneumatic balloon dilation for palliation of recurrent symptoms of achalasia after esophagomyotomy. ( 29905893 )
2018
25
&amp;quot;Management of Achalasia cardia: Expert consensus statements&amp;quot;. ( 29377271 )
2018
26
Outcome of peroral endoscopic myotomy in achalasia cardia: Experience with a new triangular knife. ( 29451180 )
2018
27
Less invasive than minimally invasive: peroral endoscopic myotomy with a slim scope in the treatment of esophageal achalasia. ( 29452429 )
2018
28
Clinical management of pediatric achalasia. ( 29439587 )
2018
29
The Effect of Race in Patients with Achalasia Diagnosed With High-Resolution Esophageal Manometry. ( 29406039 )
2018
30
Focal achalasia - case report and review of the literature. ( 29440962 )
2018
31
Achalasia subtype differences based on clinical symptoms, radiographic findings, and stasis scores. ( 29336919 )
2018
32
Eating disorder or oesophageal achalasia during adolescence: diagnostic difficulties. ( 29774515 )
2018
33
Expression and significance of interleukin-17 and interleukin-22 in the serum and the lower esophageal sphincter of patients with achalasia. ( 29806597 )
2018
34
Pathophysiology and treatment of achalasia in a muscle mechanical perspective. ( 29756656 )
2018
35
Results of pneumatic dilation in treating achalasia: predictive factors. ( 29766515 )
2018
36
Cricopharyngeal achalasia associated with laryngomalacia as a cause of failure to thrive. ( 29909783 )
2018
37
Obstructive bronchitis and recurrent pneumonia in esophageal achalasia in a child: A CARE compliant case report. ( 29879065 )
2018
38
Achalasia following reflux disease: coincidence, consequence, or accommodation? An experience-based literature review. ( 29343964 )
2018
39
Genetic Predisposition and Effect of Race in Achalasia. ( 29406035 )
2018
40
Full-layer mucosal histology in achalasia: Histological epithelial wave is characteristic in &amp;quot;pinstripe pattern&amp;quot;-positive achalasia. ( 28745833 )
2017
41
Results of Laparoscopic Heller's Myotomy for Achalasia in Children: A Systematic Review of the Literature. ( 27901639 )
2017
42
Laparoscopic graduated cardiomyotomy with anterior fundoplication as treatment for achalasia: experience of 48 cases. ( 28843659 )
2017
43
Initial experience with peroral endoscopic myotomy for treatment of achalasia in children. ( 28827050 )
2017
44
Gastroesophageal Reflux Disease Could Progress to Achalasia. ( 28874043 )
2017
45
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. ( 27707803 )
2017
46
Novel Intra-Procedural Distensibility Measurement Accurately Predicts Immediate Outcome of Pneumatic Dilatation for Idiopathic Achalasia. ( 29206815 )
2017
47
Thoracoscopic Surgery in a Patient with Multiple Esophageal Carcinomas after Surgery for Esophageal Achalasia. ( 28951795 )
2017
48
The course of achalasia one to four decades after initial treatment. ( 27925255 )
2017
49
Incidence and costs of achalasia in The Netherlands. ( 28836740 )
2017
50
Per oral endoscopic myotomy in achalasia and large epiphrenic diverticulum - a case study. ( 28884499 )
2017

Variations for Achalasia

ClinVar genetic disease variations for Achalasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(7;19)(q32;q13.1)dn Translocation Pathogenic

Expression for Achalasia

Search GEO for disease gene expression data for Achalasia.

Pathways for Achalasia

Pathways related to Achalasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.79 ENO2 NOS1 RET VIP
2 11.5 MC2R VIP VIPR1
3 10.7 GUCY1A1 NOS1
4 10.61 KIT RET TP53

GO Terms for Achalasia

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 KIT RET VIPR1

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

# Name GO ID Score Top Affiliating Genes
1 nitric oxide mediated signal transduction GO:0007263 8.62 GUCY1A1 NOS1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.4 AAAS ENO2 GMPPA GUCY1A1 KIT MC2R

Sources for Achalasia

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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