MCID: CLN044
MIFTS: 41

Colon Adenoma

Categories: Cancer diseases, Gastrointestinal diseases

Aliases & Classifications for Colon Adenoma

MalaCards integrated aliases for Colon Adenoma:

Name: Colon Adenoma 12 15
Adenomatous Polyp of Colon 74

Classifications:



External Ids:

Disease Ontology 12 DOID:0050912
UMLS 74 C0850572

Summaries for Colon Adenoma

Disease Ontology : 12 A colonic benign neoplasm that has material basis in epithelial tissue with glandular origin.

MalaCards based summary : Colon Adenoma, also known as adenomatous polyp of colon, is related to colorectal adenoma and lynch syndrome. An important gene associated with Colon Adenoma is APC (APC Regulator Of WNT Signaling Pathway), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Endometrial cancer. The drugs Scopolamine and Simethicone have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and lung, and related phenotypes are cellular and homeostasis/metabolism

Related Diseases for Colon Adenoma

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 colorectal adenoma 29.8 APC KRAS VDR
2 lynch syndrome 29.7 APC KRAS OGG1
3 colon adenocarcinoma 29.2 APC CASP3 KRAS
4 colorectal cancer 11.6
5 familial adenomatous polyposis 4 11.3
6 polyposis syndrome, hereditary mixed, 1 11.1
7 polyposis syndrome, hereditary mixed, 2 11.1
8 familial adenomatous polyposis 3 11.1
9 adenoma 10.8
10 adenocarcinoma 10.3
11 attenuated familial adenomatous polyposis 10.3 APC OGG1
12 periampullary adenoma 10.3 APC KRAS
13 hyperplastic polyposis syndrome 10.3 APC KRAS
14 mutyh-associated polyposis 10.2 APC KRAS
15 colonic benign neoplasm 10.1 KRAS LGR5
16 barrett's adenocarcinoma 10.1 GSTT2 KRAS OGG1
17 intestinal benign neoplasm 10.1 APC KRAS LGR5
18 familial adenomatous polyposis 10.1
19 intracranial hypertension, idiopathic 10.0 OGG1 RBP4
20 colitis 10.0
21 renal pelvis carcinoma 10.0 MACC1 VEGFA
22 rosacea 9.9 VDR VEGFA
23 ulcerative colitis 9.9
24 ganglioneuroma 9.9
25 malakoplakia 9.9
26 respiratory system cancer 9.8 CASP3 KRAS VEGFA
27 primary effusion lymphoma 9.8 CASP3 VEGFA
28 gastrointestinal system cancer 9.8 CASP3 KRAS VEGFA
29 respiratory system disease 9.8 CASP3 KRAS VEGFA
30 endocrine gland cancer 9.8 CASP3 KRAS VEGFA
31 gastrointestinal system disease 9.8 CASP3 KRAS VEGFA
32 pancreas adenocarcinoma 9.8 CASP3 KRAS VEGFA
33 diabetes mellitus, noninsulin-dependent 9.7
34 polyposis, skin pigmentation, alopecia, and fingernail changes 9.7
35 retinoblastoma 9.7
36 chondrosarcoma 9.7
37 cystic fibrosis 9.7
38 myasthenia gravis 9.7
39 insulin-like growth factor i 9.7
40 gallbladder disease 1 9.7
41 gastric cancer 9.7
42 autoimmune pancreatitis 9.7
43 colorectal adenocarcinoma 9.7
44 janus kinase-3 deficiency 9.7
45 glucose intolerance 9.7
46 sarcoma 9.7
47 diarrhea 9.7
48 acromegaly 9.7
49 uremia 9.7
50 pancreatitis 9.7

Graphical network of the top 20 diseases related to Colon Adenoma:



Diseases related to Colon Adenoma

Symptoms & Phenotypes for Colon Adenoma

MGI Mouse Phenotypes related to Colon Adenoma:

47 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 APC CASP3 KRAS LGR5 OGG1 RBP4
2 homeostasis/metabolism MP:0005376 10.09 APC CASP3 KLK6 KRAS LGR5 OGG1
3 cardiovascular system MP:0005385 10.07 APC CASP3 CTBP1 KRAS RBP4 VDR
4 digestive/alimentary MP:0005381 10.02 APC CASP3 KRAS LGR5 RBP4 VDR
5 endocrine/exocrine gland MP:0005379 10 APC CASP3 KRAS LGR5 RBP4 VDR
6 craniofacial MP:0005382 9.97 APC CASP3 KRAS LGR5 VDR VEGFA
7 integument MP:0010771 9.88 APC CASP3 KRAS LGR5 VDR VEGFA
8 muscle MP:0005369 9.87 APC CASP3 CTBP1 KRAS RBP4 VDR
9 limbs/digits/tail MP:0005371 9.77 APC KRAS RBP4 VDR VEGFA
10 nervous system MP:0003631 9.76 APC CASP3 CTBP1 KLK6 KRAS OGG1
11 neoplasm MP:0002006 9.65 APC KRAS LGR5 OGG1 VEGFA
12 renal/urinary system MP:0005367 9.5 APC CASP3 KRAS LGR5 RBP4 VDR
13 skeleton MP:0005390 9.17 APC CASP3 CTBP1 KRAS RBP4 VDR

Drugs & Therapeutics for Colon Adenoma

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

(show top 50) (show all 107)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Scopolamine Approved, Investigational Phase 4 6533-68-2, 51-34-3 5184
2
Simethicone Approved Phase 4,Not Applicable 8050-81-5
3
Sodium sulfate Approved, Vet_approved Phase 4 7757-82-6
4
Vitamin C Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 50-81-7 5785 54670067
5 Mydriatics Phase 4
6 Parasympatholytics Phase 4
7 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
8 Cholinergic Agents Phase 4
9 Cholinergic Antagonists Phase 4
10 Autonomic Agents Phase 4
11 Neurotransmitter Agents Phase 4
12 Anesthetics Phase 4
13 Antiemetics Phase 4
14 Adjuvants, Anesthesia Phase 4
15 Butylscopolammonium Bromide Phase 4
16 Muscarinic Antagonists Phase 4
17 Bromides Phase 4
18 Anticonvulsants Phase 4
19 Gastrointestinal Agents Phase 4,Phase 3,Phase 1
20 Pharmaceutical Solutions Phase 4,Phase 3,Not Applicable
21 Cola Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Dermatologic Agents Phase 4,Not Applicable
23 Emollients Phase 4,Not Applicable
24 Polyethylene glycol 3350 Phase 4
25 Laxatives Phase 4,Phase 3,Not Applicable
26 Cathartics Phase 4,Phase 3,Not Applicable
27
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
28
Bisacodyl Approved Phase 3,Not Applicable 603-50-9
29
Magnesium citrate Approved Phase 3 3344-18-1
30
Sodium Citrate Approved, Investigational Phase 3 68-04-2
31
Sulindac Approved, Investigational Phase 3 38194-50-2 1548887 5352
32
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
33
Celecoxib Approved, Investigational Phase 3 169590-42-5 2662
34
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
35
Calcium Approved, Nutraceutical Phase 3,Phase 1 7440-70-2 271
36
Ornithine Approved, Nutraceutical Phase 3 3184-13-2, 70-26-8 6262
37
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
38
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
39
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 5280795 6221
40 Antioxidants Phase 3,Not Applicable
41 Trace Elements Phase 3,Not Applicable
42 Vitamins Phase 3,Not Applicable
43 Nutrients Phase 3,Not Applicable
44 Micronutrients Phase 3,Not Applicable
45 Protective Agents Phase 3,Not Applicable
46 Antirheumatic Agents Phase 3,Not Applicable
47 Analgesics, Non-Narcotic Phase 3,Not Applicable
48 Platelet Aggregation Inhibitors Phase 3
49 Analgesics Phase 3,Not Applicable
50 Cyclooxygenase Inhibitors Phase 3

Interventional clinical trials:

(show top 50) (show all 104)
# Name Status NCT ID Phase Drugs
1 Does the Hyoscine N-Butylbromide Administered During Colonoscopy Increase the Adenoma Detection Rate? Unknown status NCT01609855 Phase 4 Hyoscine Butyl Bromide 20mg/2 ml i.v.;Saline 2 ml i.v.
2 Effect of Simethicone on Screening Colonoscopy Active, not recruiting NCT03119168 Phase 4 Simethicone Solution
3 Study Comparing the Bowel Cleansing Efficacy of PLENVU® Versus SELG-ESSE® Using a 2-Day Split Dosing Regimen. Active, not recruiting NCT03742232 Phase 4 PEG3350;Macrogol 4000
4 Evaluation of Colonoscopy With a Specific Device for the Detection of Adenomas Recruiting NCT03436004 Phase 4
5 APACC Study:Prospective Study on Aspirin Efficacy in Reducing Colorectal Adenoma Recurrence Terminated NCT00224679 Phase 3 Aspirin
6 Comparison of Low Volume PEG-Asc and Lower Volume PEG-Asc With Bisacodyl Completed NCT02980562 Phase 3 Polyethylene Glycols;Bisacodyl
7 A Randomized Prospective Trial Comparing Low-volume Bowel Preparation Methods Completed NCT02250196 Phase 3 PEG-Asc;SPMC 2
8 A Randomized Prospective Trial Comparing Polyethylene Glycol and Sodium Picosulphate With Magnesium Citrate Completed NCT01778192 Phase 3 Polyethylene glycol;Polyethylene glycol;Sodium picosulphate with magnesium citrate;Sodium picosulphate with magnesium citrate
9 Long-term Follow-up Study Designed to Evaluate the Relative Risk of Two Colonoscopy Schedules for Patients With Small Polyps Completed NCT00032344 Phase 3
10 S0820, Adenoma and Second Primary Prevention Trial Recruiting NCT01349881 Phase 3 Eflornithine placebo & sulindac placebo;eflornithine & sulindac placebo;Eflornithine placebo & sulindac;Eflornithine plus sulindac
11 Effect of 2 Doses of EPA on Apoptosis and Cell Proliferation on Colon Mucosa Completed NCT00432913 Phase 2, Phase 3 Eicosapentaenoic Acid (EPA)
12 Clinical Trial of Vitamin D3 to Reduce Cancer Risk in Postmenopausal Women Completed NCT01052051 Phase 3
13 Evaluation of Computer-assisted, Non-cathartic CT Colonography Completed NCT01200303 Phase 2, Phase 3
14 Rosuvastatin in Treating Patients With Stage I or Stage II Colon Cancer That Was Removed By Surgery Terminated NCT01011478 Phase 3 rosuvastatin
15 Celecoxib in Preventing Polyps in Patients Who Have Undergone Surgery for Stage I Colon Cancer Terminated NCT00087256 Phase 3 Celecoxib
16 Minimizing the Risk of Metachronous Adenomas of the Colorectum With Green Tea Extract -MIRACLE- Unknown status NCT01360320 Phase 2
17 Nivolumab in Preventing Colon Adenomas in Participants With Lynch Syndrome and a History of Partial Colectomy Recruiting NCT03631641 Phase 2
18 Detection and Classification of Colon Polyps Completed NCT00825292 Phase 2
19 Study of the Immune Response of MUC1 (Mucin1) Peptide Vaccine for Non-small Cell Lung Cancer Recruiting NCT01720836 Phase 1, Phase 2
20 Study of QRH-882260 Heptapeptide Application in the Colon Terminated NCT03148119 Phase 1 QRH-882260 Heptapeptide
21 Study of Performance of Confocal Endomicroscope With Fluorescein Imaging Agent in the Colon Recruiting NCT03220711 Phase 1 Fluorescein
22 Aquamin and Prevention of Colon Cancer Active, not recruiting NCT02647671 Phase 1 Aquamin®;Calcium Carbonate;Placebo
23 Usefulness of Calprotectin for Colon Adenoma Screening Unknown status NCT01719198
24 Impact of Diverticular Disease on the Detection of Colon Adenomas Unknown status NCT02057562
25 Effect of a Tracking Program on Colon Adenoma Surveillance and Adherence to Guideline Recommendations Unknown status NCT01713881
26 Computer-assisted Detection of Colonic Polyps Unknown status NCT02838888
27 The Impact of Split Dose of Low-volume Polyethylene Glycol on Adenoma Detection Rate Unknown status NCT02178033 Not Applicable Split dose low-volume PEG solution
28 Linked Color Imaging/Magnifying Blue Laser Imaging vs. White Light for Adenomas and Serrated Lesions in Proximal Colon Unknown status NCT02724397 Not Applicable
29 Endoscopic Full-thickness REsection of Residual Colorectal Lesions - The FiRE Study Unknown status NCT02353533 Not Applicable
30 Feasibility, Safety and Outcome of Transrectal Hybrid-NOTES Anterior Resection Unknown status NCT01992406
31 Optical Polyp Testing for In Vivo Classification Unknown status NCT03139942 Not Applicable
32 Comparison Between White Light Endoscopy and Bright Narrow Band Imaging in Diagnosis Colonic Adenomas. Recruiting NCT01737567 Not Applicable
33 Impacts of Inspection During Instrument Insertion on Colonoscopy Quality Recruiting NCT03444090 Not Applicable
34 Diagnosis of Colonic Adenomas by Bright Narrow Band Imaging (B-NBI) Completed NCT01422577 Not Applicable
35 Comparison of Colon Adenoma Detection Rate Using Two Distal Colonoscope Attachments Completed NCT02665741 Not Applicable
36 Right Colon Polyp Miss Rates of Water Exchange and Carbon Dioxide Insufflation Colonoscopy Not yet recruiting NCT03845933 Not Applicable
37 LCI (Linked Color Imaging) for Adenoma Detection in the Right Colon Recruiting NCT03279783 Not Applicable
38 BLI, NBI or White Light Colonoscopy for Proximal Colonic Adenoma Recruiting NCT03696992 Not Applicable
39 Dynamic Position Change in Colonic Adenoma Detection Completed NCT01366079 Not Applicable
40 Adenoma Miss Rate With Water Exchange vs Carbon Dioxide Colonoscopy Completed NCT03832322
41 Second Forward View Examination of Proximal Colon on Adenoma Detection Rate Not yet recruiting NCT03619122 Not Applicable
42 Linked Color Imaging Versus Narrow Band Imaging for Colorectal Adenoma Detection Recruiting NCT03336359 Not Applicable
43 Side Specific Withdrawal Times for Colonoscopy: Impact on Adenoma Detection in the Proximal and Distal Colon Completed NCT02819492
44 Effect of Video Monitor Size on Adenoma Detection Rate Completed NCT01952418 Not Applicable
45 A Follow-up Colonoscopy Examination in Patients Who Had Previously Undergone Screening Colonoscopy Completed NCT00280332
46 Linked Color Imaging (LCI) for Colorectal Adenoma Detection Recruiting NCT03690297 Not Applicable
47 A Double Balloon Endoscopic Platform for ESD Active, not recruiting NCT03551379
48 The Australian Colonic Large Sessile Lesion Endoscopic Resection Study Recruiting NCT03471793
49 Cold Snare Polypectomy in Combination With Optivista Imaging Recruiting NCT03501849 Not Applicable
50 Physical Activity Intervention With People at Increased Risk of Developing Colon Cancer Completed NCT02724306 Not Applicable

Search NIH Clinical Center for Colon Adenoma

Genetic Tests for Colon Adenoma

Anatomical Context for Colon Adenoma

MalaCards organs/tissues related to Colon Adenoma:

42
Colon, Testes, Lung, Liver, Bone

Publications for Colon Adenoma

Articles related to Colon Adenoma:

(show top 50) (show all 82)
# Title Authors Year
1
Identification, isolation and characterization of human LGR5-positive colon adenoma cells. ( 29467240 )
2018
2
The tumour microenvironment creates a niche for the self-renewal of tumour-promoting macrophages in colon adenoma. ( 29422500 )
2018
3
Chemopreventive Potential of<i>In Vitro</i>Fermented Raw and Roasted Hazelnuts in LT97 Colon Adenoma Cells. ( 29277760 )
2018
4
Compared Abilities of Endoscopic Techniques to Increase Colon Adenoma Detection Rates: A Network Meta-analysis. ( 30529731 )
2018
5
The benefit of adding oral simethicone in bowel preparation regimen for the detection of colon adenoma: A systematic review and meta-analysis. ( 30311262 )
2018
6
Colon adenoma with 2 too-long stalks (with video). ( 29223383 )
2017
7
In vitro-fermented raw and roasted walnuts induce expression of CAT and GSTT2 genes, growth inhibition, and apoptosis in LT97 colon adenoma cells. ( 29241580 )
2017
8
Influence of roasting on the chemopreventive potential of in vitro fermented almonds in LT97 colon adenoma cells. ( 28583046 )
2017
9
Altered microRNA profiles during early colon adenoma progression in a porcine model of familial adenomatous polyposis. ( 29221194 )
2017
10
Effect of a Polyp Tracking and Notification Program on Colon Adenoma Surveillance and Compliance to Guideline Recommendations. ( 27483534 )
2016
11
Colon Adenoma Implicating Myasthenia Gravis: A Case Report of a Patient with Postcolectomy Complications. ( 27610255 )
2016
12
Insertion water exchange increases right colon adenoma and hyperplastic polyp detection rates during withdrawal. ( 27017108 )
2016
13
Effect of Insulin and Metformin Combination Treatment on Colon Adenoma and Advanced Adenoma Among DM II. ( 27256336 )
2016
14
Mucins and associated glycan signatures in colon adenoma-carcinoma sequence: Prospective pathological implication(s) for early diagnosis of colon cancer. ( 26898938 )
2016
15
Circulating Biomarkers of Gut Barrier Function: Correlates and Nonresponse to Calcium Supplementation among Colon Adenoma Patients. ( 26677212 )
2016
16
Cell-surface markers for colon adenoma and adenocarcinoma. ( 26894861 )
2016
17
Low Serum Vitamin D: A Surrogate Marker for Advanced Colon Adenoma? ( 26905602 )
2016
18
Chemopreventive potential of in vitro fermented nuts in LT97 colon adenoma and primary epithelial colon cells. ( 27996158 )
2016
19
Colon adenoma features and their impact on risk of future advanced adenomas and colorectal cancer. ( 28035253 )
2016
20
Increased MACC1 levels in tissues and blood identify colon adenoma patients at high risk. ( 27439755 )
2016
21
Influence of miRNA-106b and miRNA-135a on butyrate-regulated expression of p21 and Cyclin D2 in human colon adenoma cells. ( 26559563 )
2015
22
Diagnostic relevance of autoantibody detection against inhibitors of apoptosis proteins in colon cancer and colon adenoma. ( 26137273 )
2015
23
Serum levels of retinol-binding protein 4 and risk of colon adenoma. ( 25712946 )
2015
24
Elevated co-expression of KITENIN and the ErbB4 CYT-2 isoform promotes the transition from colon adenoma to carcinoma following APC loss. ( 26527747 )
2015
25
Sporadic nonampullary duodenal adenoma/carcinoma is associated with not only colon adenoma/carcinoma but also gastric cancer: association of location of duodenal lesions with comorbid diseases. ( 25582657 )
2015
26
Sequential expression of miR-182 and miR-503 cooperatively targets FBXW7, contributing to the malignant transformation of colon adenoma to adenocarcinoma. ( 25269767 )
2014
27
Water exchange screening colonoscopy with or without indigo carmine in detecting overall and proximal colon adenoma - a randomized controlled trial. ( 24963458 )
2014
28
Post-translational Glycoprotein Modifications Regulate Colon Cancer Stem Cells and Colon Adenoma Progression in Apcmin/+ Mice through Altered Wnt Receptor Signaling. ( 25274627 )
2014
29
PARP-1 expression is increased in colon adenoma and carcinoma and correlates with OGG1. ( 25526641 )
2014
30
Colon adenoma surveillance: it takes a program. ( 25127945 )
2014
31
Kallikrein-related peptidase 6 (KLK6) expression in the progression of colon adenoma to carcinoma. ( 25153391 )
2014
32
The transcription factor GATA6 enables self-renewal of colon adenoma stem cells by repressing BMP gene expression. ( 24952462 )
2014
33
Inflammation of colon adenoma in the setting of type 1 autoimmune pancreatitis. ( 24629174 )
2014
34
Prerenal uremia induced by severe diarrhea due to colon adenoma: a case of McKittrick-Wheelock syndrome in an elderly patient. ( 28509250 )
2014
35
No Association between Circulating Levels and Genetic Variants of IL-6 and TNF-I+ and Colon Adenoma. ( 24235998 )
2013
36
Proteomics of differential extraction fractions enriched for chromatin-binding proteins from colon adenoma and carcinoma tissues. ( 24361553 )
2013
37
Adult ileal duplication revealed by a colon adenoma. ( 23778950 )
2013
38
Immunohistochemical and Western blot analysis of two protein tyrosine phosphatase receptors, R and Z1, in colorectal carcinoma, colon adenoma and normal colon tissues. ( 24242166 )
2013
39
The Immunohistochemical Expression of STAT3, Bcl-xL, and MMP-2 Proteins in Colon Adenoma and Adenocarcinoma. ( 22375170 )
2012
40
Celecoxib and tauro-ursodeoxycholic acid co-treatment inhibits cell growth in familial adenomatous polyposis derived LT97 colon adenoma cells. ( 22366264 )
2012
41
Racial differences in measures of obesity and risk of colon adenoma. ( 21996657 )
2012
42
Conscious or unconscious: the impact of sedation choice on colon adenoma detection. ( 22025879 )
2011
43
Metabolic syndrome, lifestyle risk factors, and distal colon adenoma: a retrospective cohort study. ( 22046093 )
2011
44
Physical activity and risk of colon adenoma: a meta-analysis. ( 21304525 )
2011
45
Case-control study of vitamin D, dickkopf homolog 1 (DKK1) gene methylation, VDR gene polymorphism and the risk of colon adenoma in African Americans. ( 22022386 )
2011
46
The diagnostic accuracy of high-resolution endoscopy, autofluorescence imaging and narrow-band imaging for differentially diagnosing colon adenoma. ( 21732270 )
2011
47
Long-term expansion of epithelial organoids from human colon, adenoma, adenocarcinoma, and Barrett's epithelium. ( 21889923 )
2011
48
Oxidative stress and 8-oxoguanine repair are enhanced in colon adenoma and carcinoma patients. ( 20534734 )
2010
49
Genetic polymorphisms in vitamin D receptor VDR/RXRA influence the likelihood of colon adenoma recurrence. ( 20145122 )
2010
50
Streptococcus bovis bacteremia related to colon adenoma in a chronic hemodialysis patient. ( 19758303 )
2010

Variations for Colon Adenoma

Expression for Colon Adenoma

Search GEO for disease gene expression data for Colon Adenoma.

Pathways for Colon Adenoma

GO Terms for Colon Adenoma

Biological processes related to Colon Adenoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 8.96 APC CASP3
2 striated muscle cell differentiation GO:0051146 8.62 CASP3 KRAS

Sources for Colon Adenoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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