MCID: DFF003
MIFTS: 41

Diffuse Scleroderma malady

Categories: Skin diseases, Immune diseases

Aliases & Classifications for Diffuse Scleroderma

Aliases & Descriptions for Diffuse Scleroderma:

Name: Diffuse Scleroderma 12 14 69
Systemic Sclerosis, Diffuse 12
Diffuse Systemic Sclerosis 12
Systemic Scleroderma 69
Scleroderma, Diffuse 42

Classifications:



External Ids:

Disease Ontology 12 DOID:1580
MeSH 42 D045743
NCIt 47 C116791
SNOMED-CT 64 128460000 444133002
UMLS 69 C1258104

Summaries for Diffuse Scleroderma

MalaCards based summary : Diffuse Scleroderma, also known as systemic sclerosis, diffuse, is related to systemic scleroderma and diffuse cutaneous systemic sclerosis, and has symptoms including exanthema, pruritus and hidebound skin. An important gene associated with Diffuse Scleroderma is KNG1 (Kininogen 1), and among its related pathways/superpathways are NF-kappaB Signaling and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The drugs Bosentan and Tadalafil have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart.

Related Diseases for Diffuse Scleroderma

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

(show all 45)
id Related Disease Score Top Affiliating Genes
1 systemic scleroderma 11.5
2 diffuse cutaneous systemic sclerosis 10.9
3 reynolds syndrome 10.9
4 lipodystrophy, familial partial, type 1 10.1 TGFB1 TRIM21
5 fibrous histiocytoma 10.1 KNG1 TRIM21
6 hypoparathyroidism-retardation-dysmorphism syndrome 10.1 TGFB1 TRIM21
7 rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies 10.1 TGFB1 TRIM21
8 asynchronous multifocal osteogenic sarcoma 10.0 TNFRSF10B TRIM21
9 chylocele of tunica vaginalis 10.0 KNG1 TNFRSF25
10 atrophic vulva 10.0 TGFB1 TNFRSF25
11 herpes simplex 10.0 TGFB1 TOP1
12 broad ligament malignant neoplasm 10.0 TNFRSF10B TNFRSF25
13 diabetes and deafness, maternally inherited 10.0 TNFRSF25 TRIM21
14 adamantinoma of long bones 9.9 TNFRSF25 TRIM21
15 chronic angina 9.9 TNFRSF25 TRIM21
16 specific bursitis often of occupational origin 9.9 TNFRSF25 TRIM21
17 red-green color blindness 9.9 TNFRSF10B TNFRSF25
18 lupus erythematosus 9.8
19 vasculopathy, retinal, with cerebral leukodystrophy 9.8 TNFRSF25 TRIM21
20 crest syndrome 9.8
21 esophagitis 9.8
22 interstitial lung disease 9.7
23 lung disease 9.7
24 skin disease 9.7
25 systemic lupus erythematosus 9.7
26 breast cancer 9.5
27 purpura 9.5
28 aplastic anemia 9.5
29 kidney disease 9.5
30 pulmonary hypertension 9.5
31 bilateral breast cancer 9.5
32 arthritis 9.5
33 crohn's disease 9.5
34 subcorneal pustular dermatosis 9.5
35 collagen disease 9.5
36 polyarteritis nodosa 9.5
37 dermatomyositis 9.5
38 thrombotic thrombocytopenic purpura 9.5
39 autonomic dysfunction 9.5
40 limited scleroderma 9.5
41 pneumothorax 9.5
42 rheumatoid arthritis 9.5
43 squamous cell carcinoma 9.5
44 ovarian cancer 9.5
45 rheumatic fever 8.8 BANK1 KNG1 MNDA PYHIN1 TGFB1 TNFRSF10B

Graphical network of the top 20 diseases related to Diffuse Scleroderma:



Diseases related to Diffuse Scleroderma

Symptoms & Phenotypes for Diffuse Scleroderma

UMLS symptoms related to Diffuse Scleroderma:


exanthema, pruritus, hidebound skin

Drugs & Therapeutics for Diffuse Scleroderma

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

(show top 50) (show all 253)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147536-97-8 104865
2
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 2 171596-29-5 110635
3
Cilostazol Approved Phase 4 73963-72-1 2754
4 Vaccines Phase 4
5 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Endothelin Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1
7 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Early Phase 1
8 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Early Phase 1
9 Vasodilator Agents Phase 4,Phase 2,Phase 3,Early Phase 1
10 Autonomic Agents Phase 4,Phase 3,Phase 2,Early Phase 1
11 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Early Phase 1
12 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
13 Platelet Aggregation Inhibitors Phase 4,Phase 2,Phase 3
14 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
15 Respiratory System Agents Phase 4,Phase 2,Phase 3
16 Sildenafil Citrate Phase 4,Phase 3,Phase 2,Early Phase 1 171599-83-0
17 Anti-Asthmatic Agents Phase 4
18 Bronchodilator Agents Phase 4
19 Fibrinolytic Agents Phase 4,Phase 2,Phase 3
20 Phosphodiesterase 3 Inhibitors Phase 4
21 Liver Extracts Phase 4
22 Citrate Nutraceutical Phase 4,Phase 3,Phase 2,Early Phase 1
23
Citric Acid Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Early Phase 1 77-92-9 311
24 Acidophilus Nutraceutical Phase 4,Phase 3
25 Omega 3 Fatty Acid Nutraceutical Phase 4
26
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
27
Iloprost Approved, Investigational Phase 2, Phase 3 78919-13-8 6443959
28
Nitroglycerin Approved, Investigational Phase 3,Phase 2 55-63-0 4510
29
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
30
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3, Early Phase 1 83-43-2 6741
31
Prednisolone Approved, Vet_approved Phase 2, Phase 3, Early Phase 1 50-24-8 5755
32
Mycophenolate mofetil Approved, Investigational Phase 3,Phase 2,Phase 1 128794-94-5 5281078
33
Mycophenolic acid Approved Phase 3,Phase 2,Phase 1 24280-93-1 446541
34
rituximab Approved Phase 2, Phase 3 174722-31-7 10201696
35
Lenograstim Approved Phase 3,Phase 2,Phase 1 135968-09-1
36
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
37
Macitentan Approved Phase 3 441798-33-0
38
Domperidone Approved, Investigational, Vet_approved Phase 3 57808-66-9 3151
39
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
40
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
41
Methocarbamol Approved, Vet_approved Phase 3,Phase 2 532-03-6 4107
42
Acetylcholine Approved Phase 3,Phase 2 51-84-3 187
43
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
44
Mesna Approved Phase 3,Phase 1 3375-50-6 598
45
Fludarabine Approved Phase 3,Phase 1,Phase 2 21679-14-1, 75607-67-9 30751
46
Vidarabine Approved Phase 3,Phase 1,Phase 2 24356-66-9 32326 21704
47
Nintedanib Approved Phase 3 656247-17-5 56843413
48
Lactulose Approved Phase 3 4618-18-2 11333
49
Prednisone Approved, Vet_approved Phase 3,Phase 1 53-03-2 5865
50
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474

Interventional clinical trials:

(show top 50) (show all 314)
id Name Status NCT ID Phase
1 Influenza Vaccination in Patients With Scleroderma Unknown status NCT01002508 Phase 4
2 The Clinical And Subclinical Effects on Arterial Stiffness of Bosentan in Patients With Systemic Sclerosis Unknown status NCT02480335 Phase 4
3 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan Unknown status NCT01051960 Phase 4
4 A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis Unknown status NCT01042158 Phase 4
5 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
6 Bosentan in Systemic Sclerosis Completed NCT01395732 Phase 4
7 Pulmonary Artery Remodelling With Bosentan Completed NCT00595049 Phase 4
8 Safety and Efficacy of Pletal (Cilostazol) for the Treatment of Juvenile Primary and Secondary Raynaud’s Phenomenon Completed NCT00048776 Phase 4
9 To Compare the Efficacy of Combination Therapy vs Monotherapy for Pulmonary Arterial Hypertension in Systemic Sclerosis Recruiting NCT03053739 Phase 4
10 Intraoperative ICG for Systemic Sclerosis Not yet recruiting NCT03155464 Phase 4
11 Trial to Study the Effects of Supplementary Omega-3 on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
12 Comparison of Esophageal and Anorectal Manometry Catheters Terminated NCT00204763 Phase 4
13 Probiotics in Patients With Moderate-to-severe Distention/ Bloating From Systemic Sclerosis Withdrawn NCT01497743 Phase 4
14 High Dose Intravenous N-Acetylcysteine Versus Iloprost for Early, Rapidly Progressive Diffuse Systemic Sclerosis Unknown status NCT00428883 Phase 2, Phase 3
15 Effects of Probiotics on Gastrointestinal Symptoms and on the Immune System in Patients With Systemic Sclerosis Unknown status NCT02302352 Phase 3
16 Serial Night Time Position Splint on Systemic Sclerosis Unknown status NCT01586663 Phase 3
17 Platelet Gel in Systemic Sclerosis Unknown status NCT00463125 Phase 2, Phase 3
18 Early Diagnosis of Pulmonary Hypertension in Patients With Inflammatory Rheumatic Connective Tissue Diseases Unknown status NCT01387035 Phase 3
19 A Study of a Topical Form of Nitroglycerin and Placebo in the Treatment and Prevention of Raynaud's Phenomenon Unknown status NCT00577304 Phase 3
20 Study of a Topical Formulation for the Treatment and Prevention of Raynaud's Phenomenon Symptoms Unknown status NCT00934427 Phase 3
21 Sildenafil Effect on Digital Ulcer Healing in sClerodErma SEDUCE STUDY Completed NCT01295736 Phase 3
22 Efficacy and Safety Study of GB-0998 for Treatment of Systemic Sclerosis Completed NCT00348296 Phase 3
23 High Dose Cyclophosphamide for Treatment of Scleroderma Completed NCT00501995 Phase 3
24 Effectiveness and Safety of Lidocaine for Scleroderma Completed NCT00740285 Phase 2, Phase 3
25 Macitentan for the Treatment of Digital Ulcers in Systemic Sclerosis Patients Completed NCT01474109 Phase 3
26 Gastroesophageal Reflux Treatment in Scleroderma Completed NCT01878526 Phase 3
27 Recombinant Human Relaxin in the Treatment of Diffuse Scleroderma Completed NCT00704665 Phase 3
28 Scleroderma: Cyclophosphamide or Transplantation (SCOT) Completed NCT00114530 Phase 2, Phase 3
29 Effect of Sildenafil on the Microcirculatory Blood Flow and Endothelial Progenitor Cells in Systemic Sclerosis Completed NCT01347008 Phase 3
30 Efficacy of Botulinum Toxin In Scleroderma-Associated Raynaud's Syndrome Completed NCT02165111 Phase 3
31 Efficacy and Safety of Oral Bosentan on Healing/Prevention of Digital (Finger) Ulcers in Patients With Scleroderma Completed NCT00077584 Phase 3
32 Scleroderma Lung Disease Completed NCT00004563 Phase 3
33 Efficacy and Safety of Oral Bosentan in Pulmonary Fibrosis Associated With Scleroderma Completed NCT00070590 Phase 2, Phase 3
34 Effect of Rosuvastatin on Systemic Sclerosis-related Pulmonary Hypertension Completed NCT00984932 Phase 3
35 A Randomized Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma Completed NCT01117298 Phase 3
36 A Trial of Tadalafil in Interstitial Lung Disease of Scleroderma Completed NCT01553981 Phase 3
37 Bosentan in Digital Ulcers Completed NCT00319696 Phase 3
38 Randomised Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma Completed NCT00626665 Phase 3
39 A Study of RoActemra/Actemra (Tocilizumab) Versus Placebo in Patients With Systemic Sclerosis Completed NCT01532869 Phase 3
40 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT00004786 Phase 3
41 Open-label Study With Bosentan in Interstitial Lung Disease Completed NCT00319033 Phase 2, Phase 3
42 Imiquimod in Children With Plaque Morphea Completed NCT00147771 Phase 3
43 A Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3
44 Phase III Study of Topical Gel for Treatment and Prevention of Raynaud's Phenomenon Completed NCT00266669 Phase 3
45 Lab Study of MQX-503 in Treatment of Raynaud's Completed NCT00253331 Phase 2, Phase 3
46 Phase III Study of a Topical Gel Formulation for Treatment and Prevention of Raynaud's Phenomenon Completed NCT00419419 Phase 3
47 Six Month Clinical Research Study for Patients With Moderate or Severe Dry Eye Syndrome Completed NCT00025818 Phase 3
48 "As Required" Oral Sildenafil in Raynaud's Phenomenon Completed NCT02050360 Phase 2, Phase 3
49 Safety and Efficacy Study of Sitaxentan Sodium (Thelin™) in Patients With Pulmonary Arterial Hypertension Completed NCT00080457 Phase 3
50 Autologous Stem Cell Systemic Sclerosis Immune Suppression Trial Recruiting NCT01445821 Phase 3

Search NIH Clinical Center for Diffuse Scleroderma

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: scleroderma, diffuse

Genetic Tests for Diffuse Scleroderma

Anatomical Context for Diffuse Scleroderma

MalaCards organs/tissues related to Diffuse Scleroderma:

39
Skin, Lung, Heart, Kidney, Breast, Skeletal Muscle

Publications for Diffuse Scleroderma

Articles related to Diffuse Scleroderma:

(show top 50) (show all 81)
id Title Authors Year
1
Long-term efficacy and tolerability of mycophenolate mofetil therapy in diffuse scleroderma skin disease. ( 28337853 )
2017
2
Predicting improvement in diffuse scleroderma: lessons learnt. ( 27221693 )
2016
3
Splenic Pseudoaneursym as the Cause of Recurrent Gastrointestinal Bleeding in a Woman With Diffuse Scleroderma. ( 26157926 )
2015
4
Subcutaneous calcifications in a patient with diffuse scleroderma. ( 23910621 )
2013
5
Successful treatment of steroid and cyclophosphamide-resistant diffuse scleroderma-associated interstitial lung disease with rituximab. ( 20058013 )
2012
6
Skin thickness progression rate: a predictor of mortality and early internal organ involvement in diffuse scleroderma. ( 20679474 )
2011
7
A TGFbeta-responsive gene signature is associated with a subset of diffuse scleroderma with increased disease severity. ( 19812599 )
2010
8
Reversible posterior leukoencephalopathy in diffuse scleroderma. ( 20576217 )
2010
9
Squamous cell carcinomas in 2 patients with diffuse scleroderma treated with mycophenolate mofetil. ( 19208586 )
2009
10
Subcorneal pustular dermatosis in a patient with rheumatoid arthritis and diffuse scleroderma. ( 19379649 )
2009
11
Autologous stem cell transplantation in diffuse scleroderma: impact on hand structure and function. ( 18336540 )
2008
12
Current approaches to the management of early active diffuse scleroderma skin disease. ( 18329538 )
2008
13
High-dose intravenous immunoglobulin infusion as treatment for diffuse scleroderma. ( 17381465 )
2007
14
Kidney disease other than renal crisis in patients with diffuse scleroderma. ( 15801020 )
2005
15
A case of diffuse scleroderma successfully treated with high-dose intravenous immune globulin infusion. ( 15769789 )
2005
16
The health assessment questionnaire (HAQ) is strongly predictive of good outcome in early diffuse scleroderma: results from an analysis of two randomized controlled trials in early diffuse scleroderma. ( 14679295 )
2004
17
Bilateral breast cancer associated with diffuse scleroderma. ( 14659331 )
2003
18
Diffuse scleroderma occurring after the use of paclitaxel for ovarian cancer. ( 12605319 )
2003
19
Methotrexate for the treatment of early diffuse scleroderma: comment on the article by Pope et al. ( 11920427 )
2002
20
Pilot study of anti-thymocyte globulin plus mycophenolate mofetil in recent-onset diffuse scleroderma. ( 11157146 )
2001
21
Unusual overlap of systemic lupus erythematosus and diffuse scleroderma. ( 11247318 )
2001
22
Pseudohypertension in a patient with diffuse scleroderma. ( 11273902 )
2001
23
A randomized, controlled trial of methotrexate versus placebo in early diffuse scleroderma. ( 11407694 )
2001
24
Increased alpha2-adrenergic constriction of isolated arterioles in diffuse scleroderma. ( 10943881 )
2000
25
Severe organ involvement in systemic sclerosis with diffuse scleroderma. ( 11083266 )
2000
26
Minocycline in early diffuse scleroderma. ( 9848358 )
1998
27
Thrombotic thrombocytopenic purpura in a patient with diffuse scleroderma. ( 9251403 )
1996
28
Prevalence of pulmonary hypertension in limited and diffuse scleroderma. ( 8989070 )
1996
29
Interstitial Lung Disease Developing during Treatment with Cyclosporine in a patient with Diffuse Scleroderma, Aplastic Anemia and Crohn's Disease: Implications for Pathogenesis and Treatment. ( 19077999 )
1995
30
Seizures in a patient with diffuse scleroderma. ( 7494776 )
1995
31
Autonomic dysfunction in diffuse scleroderma vs CREST: an assessment by computerized heart rate variability. ( 7837149 )
1994
32
Genetic and immunological differences between Japanese patients with diffuse scleroderma and limited scleroderma. ( 8151564 )
1994
33
A double-blind randomized controlled trial of ketotifen versus placebo in early diffuse scleroderma. ( 2003858 )
1991
34
Clinical association of autoantibodies to fibrillarin with diffuse scleroderma and disseminated telangiectasia. ( 2254467 )
1990
35
Progressive systemic sclerosis (diffuse scleroderma) and radiotherapy. ( 2242481 )
1990
36
Ketotifen-induced remission in progressive early diffuse scleroderma: evidence for the role of mast cells in disease pathogenesis. ( 2393046 )
1990
37
Organ manifestations in 100 patients with progressive systemic sclerosis: a comparison between the CREST syndrome and diffuse scleroderma. ( 2787182 )
1989
38
Mast cell numbers in diffuse scleroderma. ( 3813593 )
1987
39
Pharmacodynamic effect of dipyridamole on thallium-201 myocardial perfusion in progressive systemic sclerosis with diffuse scleroderma. ( 3490227 )
1986
40
Scl-86, a marker antigen for diffuse scleroderma. ( 3980727 )
1985
41
Landmark article May 23, 1942: Diffuse collagen disease. Acute disseminated lupus erythematosus and diffuse scleroderma. By Paul Klemperer, Abou D. Pollack and George Baehr. ( 6366270 )
1984
42
Physiologic abnormalities of cardiac function in progressive systemic sclerosis with diffuse scleroderma. ( 6690931 )
1984
43
Myocardial function and perfusion in the CREST syndrome variant of progressive systemic sclerosis. Exercise radionuclide evaluation and comparison with diffuse scleroderma. ( 6475990 )
1984
44
Pulmonary function in progressive systemic sclerosis. Comparison of CREST syndrome variant with diffuse scleroderma. ( 6628005 )
1983
45
Acute diffuse scleroderma. ( 6165202 )
1981
46
Reversible acute renal faiure in diffuse scleroderma. ( 7408249 )
1980
47
Esophageal reconstruction for stenosis due to diffuse scleroderma. Utilizing blunt dissection of esophagus. ( 4783042 )
1973
48
Progressive systemic sclerosis (diffuse scleroderma). A follow-up report of treatment with potaba. ( 4576830 )
1973
49
Chromosomal breakage in diffuse scleroderma. A study of 27 patients. ( 5125548 )
1971
50
Epidemiology of fatal systemic sclerosis (diffuse scleroderma). A 15-year survey in Baltimore. ( 6025228 )
1967

Variations for Diffuse Scleroderma

Expression for Diffuse Scleroderma

Search GEO for disease gene expression data for Diffuse Scleroderma.

Pathways for Diffuse Scleroderma

Pathways related to Diffuse Scleroderma according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.83 MNDA TNFRSF10B TNFRSF25
2
Show member pathways
11.16 KNG1 TGFB1
3 11.06 MNDA TNFRSF10B TNFRSF25
4 10.47 KNG1 TGFB1

GO Terms for Diffuse Scleroderma

Cellular components related to Diffuse Scleroderma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 8.62 KNG1 TGFB1

Biological processes related to Diffuse Scleroderma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.43 KNG1 MNDA TGFB1
2 regulation of apoptotic process GO:0042981 9.33 TGFB1 TNFRSF10B TNFRSF25
3 cellular response to mechanical stimulus GO:0071260 9.32 TGFB1 TNFRSF10B
4 regulation of cell proliferation GO:0042127 9.13 TGFB1 TNFRSF10B TNFRSF25
5 inflammatory response GO:0006954 8.92 KNG1 TGFB1 TNFRSF10B TNFRSF25

Molecular functions related to Diffuse Scleroderma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-activated receptor activity GO:0005031 8.62 TNFRSF10B TNFRSF25

Sources for Diffuse Scleroderma

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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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