MCID: PYL006
MIFTS: 45

Pyloric Stenosis

Categories: Gastrointestinal diseases

Aliases & Classifications for Pyloric Stenosis

MalaCards integrated aliases for Pyloric Stenosis:

Name: Pyloric Stenosis 12 29 52 42 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:12639
ICD10 33 K31.1
MeSH 42 D011707
NCIt 47 C34966
SNOMED-CT 64 367403001
UMLS 69 C0034194

Summaries for Pyloric Stenosis

MalaCards based summary : Pyloric Stenosis is related to hiatus hernia and hypertrophic pyloric stenosis. An important gene associated with Pyloric Stenosis is NOS1 (Nitric Oxide Synthase 1), and among its related pathways/superpathways are Neuroscience and Signaling events regulated by Ret tyrosine kinase. The drugs Midazolam and Famotidine have been mentioned in the context of this disorder. Affiliated tissues include small intestine, pancreas and heart, and related phenotypes are behavior/neurological and cardiovascular system

Wikipedia : 72 Pyloric stenosis is a narrowing of the opening from the stomach to the first part of the small intestine... more...

Related Diseases for Pyloric Stenosis

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

(show top 50) (show all 119)
id Related Disease Score Top Affiliating Genes
1 hiatus hernia 24.9 DMD HMOX2 MBNL1 NKX2-5 NOS1 NTF4
2 hypertrophic pyloric stenosis 12.5
3 pyloric stenosis, infantile hypertrophic, 3 12.0
4 pyloric stenosis, infantile hypertrophic, 2 12.0
5 pyloric stenosis, infantile hypertrophic, 5 12.0
6 pyloric stenosis, infantile hypertrophic, 4 12.0
7 epidermolysis bullosa, junctional, with pyloric stenosis 11.9
8 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 11.9
9 acquired gastric outlet stenosis 11.4
10 duodenal atresia 11.0
11 oral leukoedema 10.4 NTRK3 SST
12 properdin deficiency 10.3 DMD NOS1
13 esophagitis 10.2
14 pylorospasm 10.2
15 early-onset parkinson disease 10.1 RET SST
16 olfactory nerve disease 10.0 HDC NTRK3
17 eosinophilic gastroenteritis 10.0
18 gastroenteritis 10.0
19 neuronitis 10.0
20 esophageal atresia 10.0
21 duodenitis 10.0
22 megalocytic interstitial nephritis 10.0 GDNF RET
23 hypogonadotropic hypogonadism without anosmia, x-linked 10.0 GDNF RET
24 crohn's disease 9.9
25 epidermolysis bullosa 9.9
26 mucositis 9.9
27 tracheoesophageal fistula 9.9
28 central hypoventilation syndrome, congenital 9.9 GDNF RET
29 ileocolitis 9.9 GDNF NOS1
30 cardiomyopathy, dilated, 1d 9.9 DMD HMOX2
31 pertussis 9.9
32 heart disease 9.9
33 ichthyosis 9.9
34 pancreatitis 9.9
35 gilbert syndrome 9.9
36 pneumatosis cystoides intestinalis 9.9
37 gastric dilatation 9.9
38 jejunal atresia 9.8
39 congenital diaphragmatic hernia 9.8
40 gastritis 9.8
41 duodenal ulcer 9.8
42 achalasia 9.8
43 adenomyoma 9.8
44 gastroesophageal reflux 9.8
45 gastric duplication cysts 9.8
46 junctional epidermolysis bullosa 9.8
47 gastric ulcer 9.8
48 sweat gland cancer 9.6 GDNF RET SST
49 breast cancer 9.6
50 gastroschisis 9.6

Graphical network of the top 20 diseases related to Pyloric Stenosis:



Diseases related to Pyloric Stenosis

Symptoms & Phenotypes for Pyloric Stenosis

MGI Mouse Phenotypes related to Pyloric Stenosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.26 DMD GDNF HDC HMOX2 MBNL1 NOS1
2 cardiovascular system MP:0005385 10.11 DMD GDNF HMOX2 MBNL1 NKX2-5 NOS1
3 growth/size/body region MP:0005378 10.1 DMD GDNF HDC MBNL1 NKX2-5 NOS1
4 homeostasis/metabolism MP:0005376 10.02 DMD HDC HMOX2 NKX2-5 NOS1 NTF4
5 mortality/aging MP:0010768 10.02 GDNF HMOX2 MBNL1 NKX2-5 NOS1 NTF4
6 digestive/alimentary MP:0005381 9.98 SST NOS1 RET DMD GDNF HMOX2
7 nervous system MP:0003631 9.97 DMD GDNF HDC HMOX2 MBNL1 NKX2-5
8 muscle MP:0005369 9.86 DMD GDNF HMOX2 MBNL1 NKX2-5 NOS1
9 no phenotypic analysis MP:0003012 9.56 HDC NKX2-5 NOS1 NTRK3 RET SST
10 respiratory system MP:0005388 9.1 DMD HMOX2 NKX2-5 NOS1 NTRK3 RET

Drugs & Therapeutics for Pyloric Stenosis

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

(show top 50) (show all 64)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
2
Famotidine Approved Phase 3 76824-35-6 3325
3
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
4
Ibuprofen Approved Phase 3 15687-27-1 3672
5
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
6
Celecoxib Approved, Investigational Phase 3 169590-42-5 2662
7
Dexlansoprazole Approved Phase 3 138530-94-6, 103577-45-3 9578005
8
Lansoprazole Approved, Investigational Phase 3 103577-45-3 3883
9
Naproxen Approved, Vet_approved Phase 3 22204-53-1 1302 156391
10
Acetaminophen Approved Phase 3 103-90-2 1983
11
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
12
Ticlopidine Approved Phase 3 55142-85-3 5472
13
Clopidogrel Approved, Nutraceutical Phase 3 120202-66-6, 113665-84-2 60606
14 Analgesics Phase 3
15 Analgesics, Non-Narcotic Phase 3
16 Antacids Phase 3
17 Anti-Inflammatory Agents Phase 3
18 Anti-Inflammatory Agents, Non-Steroidal Phase 3
19 Antirheumatic Agents Phase 3
20 Anti-Ulcer Agents Phase 3
21 Cyclooxygenase Inhibitors Phase 3
22 Gastrointestinal Agents Phase 3
23 Histamine Antagonists Phase 3
24 Histamine H2 Antagonists Phase 3
25
Histamine Phosphate Phase 3 51-74-1 65513
26 Neurotransmitter Agents Phase 3
27 Peripheral Nervous System Agents Phase 3
28 Antipyretics Phase 3
29 Cyclooxygenase 2 Inhibitors Phase 3
30 Fibrinolytic Agents Phase 3
31 Platelet Aggregation Inhibitors Phase 3
32
Proton pump inhibitors Phase 3
33 Anesthetics Phase 2, Phase 3
34 Pharmaceutical Solutions Phase 3,Phase 2
35 Cytochrome P-450 Enzyme Inhibitors Phase 3
36 Purinergic P2 Receptor Antagonists Phase 3
37 Purinergic P2Y Receptor Antagonists Phase 3
38
Azithromycin Approved 83905-01-5 55185 53477736 447043
39
Cefazolin Approved 25953-19-9 656510 33255
40
Clindamycin Approved, Vet_approved 18323-44-9 29029
41
Esomeprazole Approved, Investigational 161796-78-7, 119141-88-7 4594 9579578
42
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
43
Epinephrine Approved, Vet_approved 51-43-4 5816
44
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
45
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
46 Racepinephrine Approved
47
Rocuronium Approved 119302-91-9, 143558-00-3 441290
48
Sevoflurane Approved, Vet_approved 28523-86-6 5206
49
Methylene blue Investigational 61-73-4
50 Mosapride Investigational 112885-41-3

Interventional clinical trials:

(show all 36)

id Name Status NCT ID Phase Drugs
1 Outcome Study of Double Bare Stent for Malignant Gastric Outlet Obstruction Unknown status NCT02156505 Phase 4
2 RCT: STARR vs Biofeedback Completed NCT00556283 Phase 4
3 Endoscopic Stenting Versus Surgical Bypass for Low Bile Duct Obstruction by Cancer of the Pancreatic Head Unknown status NCT00753441 Phase 2, Phase 3
4 Laparoscopic Versus Open Pyloromyotomy for Infants With Idiopathic Hypertrophic Pyloric Stenosis Completed NCT00195949 Phase 3
5 Covered Versus Uncovered Self-expandable Metallic Stents for Malignant Gastric Outlet Obstruction Completed NCT01646476 Phase 3
6 Efficacy and Safety Study of HZT-501 in Subjects Requiring Nonsteroidal Anti-Inflammatory Drug (NSAID) Treatment Completed NCT00450216 Phase 3 Ibuprofen/famotidine;Ibuprofen
7 A Comparison of Safety and Treatment in Subjects With Osteoarthritis Taking Low Dose Aspirin Completed NCT00175032 Phase 3 Lansoprazole and naproxen and aspirin;Celecoxib and aspirin
8 Study of Gastroduodenal Metallic Stent vs Gastrojejunostomy Recruiting NCT02784470 Phase 3
9 Gastric Partitioning Procedure for the Treatment of Unresectable and Obstructive Distal Gastric Cancer Recruiting NCT02064803 Phase 3
10 Partially Covered Versus Uncovered Pyloro-duodenal Stents for Unresectable Malignant Gastric Outlet Obstruction. A Double Blinded Randomised Controlled Trial. Not yet recruiting NCT03223831 Phase 3
11 EUS - Guided Balloon-occluded Gastrojejunostomy Bypass Not yet recruiting NCT03223480 Phase 2, Phase 3
12 IV Acetaminophen for Post-Operative Pain Management in Enhanced Recovery After Surgery (ERAS) Population Not yet recruiting NCT03198871 Phase 3 Acetaminophen Injectable Product;Sodium Chloride 0.9%, Intravenous
13 Clopidogrel and the Optimization of Gastrointestinal Events (COGENT-1) Terminated NCT00557921 Phase 3 CGT-2168 (clopidogrel 75 mg/omeprazole 20 mg) and aspirin;Plavix (clopidogrel 75 mg) and aspirin
14 Evaluation of the Safety and Effectiveness of Tailored Transoral Incisionless Fundoplication (TIF) Using EsophyX for the Treatment of GERD Withdrawn NCT01025739 Phase 2
15 Frequency of Formula Change Prior to the Accurate Diagnosis of Pyloric Stenosis Unknown status NCT00409734
16 The Effect of Hypertrophic Pyloric Stenosis (HPS) on Sodium Intake in Childhood Unknown status NCT01159509
17 The Usefulness of Self-expandable Metal Stents(SEMS) for Malignant Gastric Outlet Obstruction: a Prospective Study Using New Designed Stents Unknown status NCT02440724
18 Open vs Laparoscopic Pyloromyotomy for Pyloric Stenosis Unknown status NCT00144924
19 Biliary Drainage in Patients With Duodenal Metal Stent Unknown status NCT02376907
20 Post-Operative Impact of Nasogastric Tubes on Rates of Emesis in Infants Diagnosed With Pyloric Stenosis Completed NCT01139853 Early Phase 1
21 Gastric Outlet Obstructions Tailored Covered Stents for GOO Completed NCT02299258
22 EVOLUTION® Duodenal Stent for Duodenal or Gastric Outlet Obstruction Caused by Malignant Neoplasms Completed NCT00991614
23 ComVi and D-type Stent in Malignant GOO Completed NCT01839292
24 Different Feeding Methods After Pyloromyotomy Completed NCT01509417
25 Study of Effectiveness and Safety of Azithromycin-based Extended-spectrum Prophylaxis to Prevent Post Cesarean Infection Completed NCT01235546 Azithromycin and standard of care;Placebo and standard of care
26 Cooperative Group for Clinical Research in G-POEM (POP), Jiangsu, China Recruiting NCT03040817 Esomeprazole + Mosapride
27 Natural History of Infants With Patent Processus Vaginalis Recruiting NCT03042858
28 Outcomes of Ablation of Unresectable Pancreatic Cancer Using the NanoKnife Irreversible Electroporation (IRE) System Recruiting NCT02041936
29 Endoscopic Gastroenteric Anastomosis With New Tissue Apposing Stent in the Management of Antro-pyloroduodenal Obstruction : Evaluation of Feasibility, Efficacy and Tolerance. Recruiting NCT02562157
30 Conventional Direct Laryngoscopy Vs. Video Laryngoscopy With The C-MAC For Pyloromyotomy Enrolling by invitation NCT02775214
31 Institutional Audit of the Use of Intravenous Acetaminophen in Infants Undergoing Pyloromyotomy Enrolling by invitation NCT02359305 Acetaminophen
32 Endoscopic Large Caliber Drainage vs. Complete Necrosectomy for Treatment of Walled-off Pancreatic Necrosis Enrolling by invitation NCT02564965
33 EUS-GE vs ES for Palliation of GOO Not yet recruiting NCT03259763
34 Post-operative Outcomes in the Pyloromyotomy Procedure Under Spinal Anesthesia Not yet recruiting NCT02879292
35 Spinal Anesthesia and General Anesthesia for Pyloromyotomy - Surgical Outcomes a Comparison Retrospective Study Not yet recruiting NCT03095144
36 Magnetic Anastomosis Device Relief of Malignant Gastric Outlet Obstruction Terminated NCT00487552

Search NIH Clinical Center for Pyloric Stenosis

Cochrane evidence based reviews: pyloric stenosis

Genetic Tests for Pyloric Stenosis

Genetic tests related to Pyloric Stenosis:

id Genetic test Affiliating Genes
1 Pyloric Stenosis 29

Anatomical Context for Pyloric Stenosis

MalaCards organs/tissues related to Pyloric Stenosis:

39
Small Intestine, Pancreas, Heart, Kidney, Smooth Muscle, Testes, Cervix

Publications for Pyloric Stenosis

Articles related to Pyloric Stenosis:

(show top 50) (show all 809)
id Title Authors Year
1
Population-level surgical outcomes for infantile hypertrophic pyloric stenosis. ( 28576429 )
2017
2
Use of a lumen-apposing metal stent to treat pyloric stenosis. ( 28389214 )
2017
3
Atropine Treatment for Hypertrophic Pyloric Stenosis: A Systematic Review and Meta-analysis. ( 28701002 )
2017
4
Corrected to uncorrected? The metabolic conundrum of hypertrophic pyloric stenosis. ( 28189444 )
2017
5
A Difficult Recurrent Hypertrophic Pyloric Stenosis. ( 28770145 )
2017
6
50 Years Ago in The Journal of Pediatrics: The Radiographic Diagnosis of Congenital Hypertrophic Pyloric Stenosis. ( 28648281 )
2017
7
Does metabolic alkalosis influence cerebral oxygenation in infantile hypertrophic pyloric stenosis? ( 28550912 )
2017
8
Epidemiological and clinical characteristics of 304 patients with infantile hypertrophic pyloric stenosis in Anhui Province of East China, 2012-2015. ( 28701060 )
2017
9
Excessive Bright Echoes Sign for Hypertrophic Pyloric Stenosis Suggest the Diagnosis: Gastric Pneumatosis and Portal Venous Gas in Infants Suggest HPS. ( 28295432 )
2017
10
Application of color Doppler ultrasound combined with Doppler imaging artifacts in the diagnosis and estimate of congenital hypertrophic pyloric stenosis. ( 28842652 )
2017
11
A breathtakingly rare presentation of pyloric stenosis. ( 28665094 )
2017
12
Perinatal risk factors for infantile hypertrophic pyloric stenosis: A meta-analysis. ( 28318599 )
2017
13
Consideration of pyloric stenosis as a cause of feeding dysfunction in children with cyanotic heart disease. ( 28928620 )
2017
14
A novel missense mutation in the transcription factor FOXF1 co-segregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24. ( 27855150 )
2016
15
Prematurity Affects Age of Presentation of Pyloric Stenosis. ( 27149987 )
2016
16
Adult idiopathic hypertrophic pyloric stenosis. ( 27362602 )
2016
17
Adult-Onset Idiopathic Hypertrophic Pyloric Stenosis Associated With Osteoglophonic Dysplasia and HIV: Case Report and Review of Literature. ( 27599310 )
2016
18
Optimizing fluid resuscitation in hypertrophic pyloric stenosis. ( 26876090 )
2016
19
Azithromycin: pyloric stenosis in neonates. ( 27486645 )
2016
20
Laparoscopic pyloromyotomy decreases postoperative length of stay in children with hypertrophic pyloric stenosis. ( 27292596 )
2016
21
Efficacy of Medical Treatment for Infantile Hypertrophic Pyloric Stenosis: AA Meta-analysis. ( 27215474 )
2016
22
A randomized trial to assess advancement of enteral feedings following surgery for hypertrophic pyloric stenosis. ( 27829521 )
2016
23
Hypertrophic pyloric stenosis in the Maritimes: examining the waves of change over time. ( 27669400 )
2016
24
Is there any correlation between radiologic findings and eradication of symptoms after pyloromyotomy in hypertrophic pyloric stenosis? ( 27251656 )
2016
25
Pitfall in the remote imaging of pyloric stenosis. ( 27260853 )
2016
26
NSAID-induced pyloric stenosis leading to oesophageal intramucosal dissection. ( 27199442 )
2016
27
Gastric wall ischemia following massive gastric distension due to peptic pyloric stenosis: a case report. ( 26851051 )
2016
28
Roux-en-Y augmented gastric advancement: An alternative technique for concurrent esophageal and pyloric stenosis secondary to corrosive intake. ( 28070231 )
2016
29
Formula-feeding and hypertrophic pyloric stenosis: is there an association? A case-control study. ( 26944185 )
2016
30
Infantile hypertrophic pyloric stenosis with unusual presentations in Sagamu, Nigeria: a case report and review of the literature. ( 27642452 )
2016
31
Asymmetric Hypertrophic Pyloric Stenosis with Concurrent Pancreatic Rest Presenting as Gastric Outlet Obstruction. ( 27179550 )
2016
32
Post-natal erythromycin exposure and risk of infantile hypertrophic pyloric stenosis: a systematic review and meta-analysis. ( 27655365 )
2016
33
Risk factors and management for pyloric stenosis occurred after endoscopic submucosal dissection adjacent to pylorus. ( 27977608 )
2016
34
Treating idiopathic hypertrophic pyloric stenosis with sequential therapy: A clinical study. ( 27439633 )
2016
35
The cervix sign and other sonographic signs of hypertrophic pyloric stenosis. ( 27315074 )
2016
36
Contemporary management of pyloric stenosis. ( 27521712 )
2016
37
Operative outcomes of infantile hypertrophic pyloric stenosis in patients with congenital heart disease. ( 27528563 )
2016
38
Recurrent pyloric stenosis. ( 27389044 )
2016
39
Gastric adenomyoma clinically simulating hypertrophic pyloric stenosis. ( 26837724 )
2016
40
Idiopathic pyloric stenosis. ( 28154715 )
2016
41
Recent changes in the features of hypertrophic pyloric stenosis. ( 26615824 )
2016
42
Late-onset hypertrophic pyloric stenosis with gastric outlet obstruction: case report and review of the literature. ( 27506212 )
2016
43
Ultrasound assessment of the gastric contents for the guidance of the anaesthetic strategy in infants with hypertrophic pyloric stenosis: a prospective cohort study. ( 27106968 )
2016
44
Health disparities in infants with hypertrophic pyloric stenosis. ( 27586849 )
2016
45
Successful combination of endoscopic pyloromyotomy and balloon dilatation for hypertrophic pyloric stenosis in an older child: A novel procedure. ( 27915443 )
2016
46
No association between macrolide treatment in infancy and later pyloric stenosis in Sweden. ( 26694588 )
2016
47
Cost of Hospitalization for Infantile Pyloric Stenosis. ( 26802838 )
2016
48
Pyloric stenosis after a Roux-en-Y gastric bypass: a case report. ( 25541110 )
2015
49
Pneumatosis intestinalis presenting as pneumoperitoneum in a teenage girl with pyloric stenosis. ( 25721833 )
2015
50
The cause of pyloric stenosis of infancy: A hyperacidity pathogenesis. ( 26654484 )
2015

Variations for Pyloric Stenosis

Expression for Pyloric Stenosis

Search GEO for disease gene expression data for Pyloric Stenosis.

Pathways for Pyloric Stenosis

Pathways related to Pyloric Stenosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.43 NOS1 NTRK3 RET TRPC6
2 10.84 GDNF RET
3 10.55 TRPC5 TRPC6
4 10.23 DMD NOS1

GO Terms for Pyloric Stenosis

Cellular components related to Pyloric Stenosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.13 RET SST TRPC5
2 membrane raft GO:0045121 8.92 DMD NOS1 RET TRPC5

Biological processes related to Pyloric Stenosis according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.72 GDNF MBNL1 NTRK3 RET TRPC5
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.63 NTF4 NTRK3 RET
3 positive regulation of cell proliferation GO:0008284 9.56 GDNF NKX2-5 NTRK3 TRPC5
4 regulation of cytosolic calcium ion concentration GO:0051480 9.55 TRPC5 TRPC6
5 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.54 TRPC5 TRPC6
6 neural crest cell migration GO:0001755 9.52 GDNF RET
7 regulation of cardiac muscle contraction GO:0055117 9.51 NKX2-5 NOS1
8 innervation GO:0060384 9.49 NTF4 RET
9 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.48 DMD NOS1
10 manganese ion transport GO:0006828 9.43 TRPC5 TRPC6
11 enteric nervous system development GO:0048484 9.4 GDNF RET
12 negative regulation of dendrite morphogenesis GO:0050774 9.37 TRPC5 TRPC6
13 mechanoreceptor differentiation GO:0042490 9.16 NTF4 NTRK3
14 neuron differentiation GO:0030182 9.13 RET TRPC5 TRPC6
15 positive regulation of neuron differentiation GO:0045666 8.92 DMD NKX2-5 TRPC5 TRPC6

Molecular functions related to Pyloric Stenosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actinin binding GO:0042805 9.16 TRPC5 TRPC6
2 store-operated calcium channel activity GO:0015279 8.96 TRPC5 TRPC6
3 inositol 1,4,5 trisphosphate binding GO:0070679 8.62 TRPC5 TRPC6
4 protein binding GO:0005515 10.03 DMD GDNF HDC HMOX2 MBNL1 NKX2-5

Sources for Pyloric Stenosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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