MCID: DFF003
MIFTS: 59

Diffuse Scleroderma malady

Rare diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Diffuse Scleroderma

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MalaCards based summary: Diffuse Scleroderma, also known as diffuse cutaneous systemic sclerosis, is related to interstitial lung disease and pulmonary fibrosis, and has symptoms including dry skin, acrocyanosis and respiratory insufficiency. An important gene associated with Diffuse Scleroderma is CTGF (connective tissue growth factor), and among its related pathways are amb2 Integrin signaling and Development TGF beta receptor signaling. The compounds des-arg(10)-kallidin and kallidin have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related mouse phenotype homeostasis/metabolism.

Aliases & Classifications for Diffuse Scleroderma

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Sources:
10Disease Ontology, 43NIH Rare Diseases, 62UMLS, 49Orphanet, 57SNOMED-CT, 35MeSH, 28ICD10 via Orphanet
See all sources

Diffuse Scleroderma, Aliases & Descriptions:

Name: Diffuse Scleroderma 10 43 62
Diffuse Cutaneous Systemic Sclerosis 43 49 62
Diffuse Systemic Sclerosis 10 43 62
Diffuse Cutaneous Systemic Scleroderma 43 49
Dysplastic Cortical Hyperostosis 43 49
Kozlowski-Tsuruta Syndrome 43 49
 
Sudden Onset Scleroderma 43 62
Progressive Cutaneous Systemic Scleroderma 49
Progressive Cutaneous Systemic Sclerosis 49
Systemic Sclerosis, Diffuse 10
Dcssc 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
diffuse cutaneous systemic sclerosis:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: adult


External Ids:

Disease Ontology10 DOID:1580
Orphanet49 2204, 220393
ICD10 via Orphanet28 M89.8, M34.0

Related Diseases for Diffuse Scleroderma

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

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1interstitial lung disease30.3BMP6, TGFB1
2pulmonary fibrosis30.3TGFB1, BMP6, CAV1, FBL, CTGF
3systemic lupus erythematosus30.2HLA-DRB1, FBL, IRF5
4connective tissue disease30.1TGFB1, HLA-DRB1
5hepatitis30.1TGFB1, HLA-DRB1
6skin disease30.1HLA-DRB1, TGFB1
7kidney disease30.1CTGF, KNG1, TGFB1
8systemic scleroderma30.1CTGF, IRF5
9arthritis30.0KNG1, TGFB1, CTGF, HLA-DRB1
10breast cancer30.0BMP6, TGFB1, CCR6, CAV1, CTGF
11rheumatoid arthritis29.9CTGF, IRF5, CCR6, BMP6, HLA-DRB1
12scleroderma11.0
13hyperostosis10.4
14lupus erythematosus10.3
15crest syndrome10.3
16esophagitis10.3
17dwarfism10.3
18pityriasis rubra pilaris10.2
19microscopic polyangiitis10.2
20autoimmune hepatitis10.1
21gastric antral vascular ectasia10.1
22steatorrhea10.1
23actinomycosis10.1
24hepatitis a10.1
25mixed connective tissue disease10.1
26vasculitis10.1
27papular mucinosis10.1
28cytomegalovirus infection10.1
29headache10.1
30endotheliitis10.1
31atlantoaxial subluxation10.1
32reynolds syndrome10.0
33pulmonary function10.0
34aplastic anemia10.0
35pulmonary hypertension10.0
36crohn's disease10.0
37limited scleroderma10.0
38thrombotic thrombocytopenic purpura10.0
39polyarteritis nodosa10.0
40subcorneal pustular dermatosis10.0
41bilateral breast cancer10.0
42collagen disease10.0
43dermatomyositis10.0
44pneumothorax10.0
45purpura10.0
46spontaneous pneumothorax10.0
47autonomic dysfunction10.0
48blindness10.0
49telangiectasis10.0FBL, BMP6
50hereditary hemorrhagic telangiectasia10.0TGFB1, BMP6

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



Diseases related to diffuse scleroderma

Symptoms for Diffuse Scleroderma

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Symptoms:

 49 (show all 45)
  • microcephaly
  • global upper and lower limbs anomalies
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • structural anomalies of the kidney and the urinary tract
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • osteosclerosis/osteopetrosis/bone condensation
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • cortical anomaly/thick bone cortical layer
  • short stature/dwarfism/nanism
  • stillbirth/neonatal death
  • polyhydramnios
  • hydrops fetalis
  • anomalies of skin, subcutaneous tissue and mucosae
  • dry/squaly skin/exfoliation
  • dermal/subcutaneous infiltration/induration
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • radiologic lung abnormalities/changes
  • lung/pulmonary infiltrates
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • autoimmunity/autoimmune reaction/autoantibodies
  • mouth dryness/xerostomia
  • multiple caries
  • chronic skin infection/ulcerations/ulcers/cancrum
  • telangiectasiae of the skin
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • malabsorption/chronic diarrhea/steatorrhea
  • lung fibrosis
  • dyspareunia/coital pain/vaginal dryness
  • muscle weakness/flaccidity
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • osteolysis/osteoclasia/bone destruction/erosions
  • articular/joint pain/arthralgia
  • arthritis/synovitis/synovial proliferation
  • tendon rupture/tendinitis/bursitis/tenosynovitis
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • intestinal transit disorder
  • pulmonary hypertension
  • heart/cardiac failure
  • acute arterial hypertension/hypertensive crisis
  • renal failure
  • periarticular tissue anomaly/extraarticular calcifications

HPO human phenotypes related to Diffuse Scleroderma:

(show all 36)
id Description Frequency HPO Source Accession
1 dry skin hallmark (90%) HP:0000958
2 acrocyanosis hallmark (90%) HP:0001063
3 respiratory insufficiency hallmark (90%) HP:0002093
4 pulmonary infiltrates hallmark (90%) HP:0002113
5 autoimmunity hallmark (90%) HP:0002960
6 abnormality of the urinary system hallmark (90%) HP:0000079
7 microcephaly hallmark (90%) HP:0000252
8 polyhydramnios hallmark (90%) HP:0001561
9 splenomegaly hallmark (90%) HP:0001744
10 hydrops fetalis hallmark (90%) HP:0001789
11 hepatomegaly hallmark (90%) HP:0002240
12 abnormality of neuronal migration hallmark (90%) HP:0002269
13 skeletal dysplasia hallmark (90%) HP:0002652
14 abnormality of limb bone morphology hallmark (90%) HP:0002813
15 abnormal cortical bone morphology hallmark (90%) HP:0003103
16 short stature hallmark (90%) HP:0004322
17 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
18 increased bone mineral density hallmark (90%) HP:0011001
19 xerostomia typical (50%) HP:0000217
20 carious teeth typical (50%) HP:0000670
21 muscle weakness typical (50%) HP:0001324
22 arthritis typical (50%) HP:0001369
23 flexion contracture typical (50%) HP:0001371
24 malabsorption typical (50%) HP:0002024
25 pulmonary fibrosis typical (50%) HP:0002206
26 osteolysis typical (50%) HP:0002797
27 arthralgia typical (50%) HP:0002829
28 feeding difficulties in infancy typical (50%) HP:0008872
29 teleangiectasia of the skin typical (50%) HP:0100585
30 skin ulcer typical (50%) HP:0200042
31 renal insufficiency occasional (7.5%) HP:0000083
32 chondrocalcinosis occasional (7.5%) HP:0000934
33 congestive heart failure occasional (7.5%) HP:0001635
34 nausea and vomiting occasional (7.5%) HP:0002017
35 pulmonary hypertension occasional (7.5%) HP:0002092
36 hypertensive crisis occasional (7.5%) HP:0100735

Drugs & Therapeutics for Diffuse Scleroderma

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Drug clinical trials:

Search ClinicalTrials for Diffuse Scleroderma

Search NIH Clinical Center for Diffuse Scleroderma

Genetic Tests for Diffuse Scleroderma

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Anatomical Context for Diffuse Scleroderma

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MalaCards organs/tissues related to Diffuse Scleroderma:

33
Skin, Bone, Lung, Heart, Kidney, Liver, Skeletal muscle, Breast

Animal Models for Diffuse Scleroderma or affiliated genes

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MGI Mouse Phenotypes related to Diffuse Scleroderma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.9CTGF, KNG1, CAV1, CCR6, IRF5, TGFB1

Publications for Diffuse Scleroderma

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Articles related to Diffuse Scleroderma:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Successful treatment of steroid and cyclophosphamide-resistant diffuse scleroderma-associated interstitial lung disease with rituximab. (20058013)
2012
2
Skin thickness progression rate: a predictor of mortality and early internal organ involvement in diffuse scleroderma. (20679474)
2011
3
A TGFbeta-responsive gene signature is associated with a subset of diffuse scleroderma with increased disease severity. (19812599)
2010
4
Squamous cell carcinomas in 2 patients with diffuse scleroderma treated with mycophenolate mofetil. (19208586)
2009
5
Autologous stem cell transplantation in diffuse scleroderma: impact on hand structure and function. (18336540)
2008
6
High-dose intravenous immunoglobulin infusion as treatment for diffuse scleroderma. (17381465)
2007
7
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
8
Bilateral breast cancer associated with diffuse scleroderma. (14659331)
2003
9
Diffuse scleroderma occurring after the use of paclitaxel for ovarian cancer. (12605319)
2003
10
Methotrexate for the treatment of early diffuse scleroderma: comment on the article by Pope et al. (11920427)
2002
11
Unusual overlap of systemic lupus erythematosus and diffuse scleroderma. (11247318)
2001
12
Pseudohypertension in a patient with diffuse scleroderma. (11273902)
2001
13
Increased alpha2-adrenergic constriction of isolated arterioles in diffuse scleroderma. (10943881)
2000
14
Severe organ involvement in systemic sclerosis with diffuse scleroderma. (11083266)
2000
15
Minocycline in early diffuse scleroderma. (9848358)
1998
16
Prevalence of pulmonary hypertension in limited and diffuse scleroderma. (8989070)
1996
17
Thrombotic thrombocytopenic purpura in a patient with diffuse scleroderma. (9251403)
1996
18
Seizures in a patient with diffuse scleroderma. (7494776)
1995
19
Ketotifen-induced remission in progressive early diffuse scleroderma: evidence for the role of mast cells in disease pathogenesis. (2393046)
1990
20
Clinical association of autoantibodies to fibrillarin with diffuse scleroderma and disseminated telangiectasia. (2254467)
1990
21
Progressive systemic sclerosis (diffuse scleroderma) and radiotherapy. (2242481)
1990
22
Organ manifestations in 100 patients with progressive systemic sclerosis: a comparison between the CREST syndrome and diffuse scleroderma. (2787182)
1989
23
Mast cell numbers in diffuse scleroderma. (3813593)
1987
24
Scl-86, a marker antigen for diffuse scleroderma. (3980727)
1985
25
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
26
Myocardial function and perfusion in the CREST syndrome variant of progressive systemic sclerosis. Exercise radionuclide evaluation and comparison with diffuse scleroderma. (6475990)
1984
27
Pulmonary function in progressive systemic sclerosis. Comparison of CREST syndrome variant with diffuse scleroderma. (6628005)
1983
28
Reversible acute renal faiure in diffuse scleroderma. (7408249)
1980
29
Progressive systemic sclerosis (diffuse scleroderma). A follow-up report of treatment with potaba. (4576830)
1973
30
Esophageal reconstruction for stenosis due to diffuse scleroderma. Utilizing blunt dissection of esophagus. (4783042)
1973
31
Recurrent spontaneous pneumothorax in diffuse scleroderma. Report of a case. (5907810)
1966
32
Electron microscopic observations on skeletal muscle in diffuse scleroderma. (5944482)
1966
33
PROGRESSIVE SYSTEMIC SCLEROSIS (DIFFUSE SCLERODERMA) TREATMENT WITH POTABA--A PRELIMINARY REPORT. (14297920)
1965
34
AN EARLY PULMONARY PHYSIOLOGIC ABNORMALITY IN PROGRESSIVE SYSTEMIC SCLEROSIS (DIFFUSE SCLERODERMA). (14131880)
1964
35
THE NERVE NETWORK OF THE SKIN IN DIFFUSE SCLERODERMA AND CLINICALLY SIMILAR CONDITIONS. (14071463)
1963
36
A REVIEW OF RECENT OBSERVATIONS AND CURRENT THEORIES ON THE ETIOLOGY AND PATHOGENESIS OF PROGRESSIVE SYSTEMIC SCLEROSIS (DIFFUSE SCLERODERMA). (14058399)
1963
37
The natural history of progressive systemic sclerosis (diffuse scleroderma). (13974644)
1963
38
Immunoelectrophoresis of serum in progressive systemic sclerosis (diffuse scleroderma). (13788679)
1961
39
Acrosclerosis: a disease sui generis or a variety of diffuse scleroderma. (13638459)
1959
40
Esophageal involvement in diffuse scleroderma. (13645796)
1959
41
Diffuse scleroderma; a clinical study of sixty-five cases. (13585869)
1958
42
Musculoskeletal manifestations of systemic lupus erythematosus, polyarteritis nodosa, dermatomyositis and diffuse scleroderma. (13539595)
1958
43
Dental characteristics associated with acrosclerosis and diffuse scleroderma. (13428493)
1957
44
Observations on the use of prednisone in patients with progressive systemic sclerosis (diffuse scleroderma). (13275847)
1956
45
Diffuse scleroderma in an African male. (13097594)
1953
46
Clinical study of visceral lesions and endocrine disturbances in eight cases of diffuse scleroderma. (14830069)
1951
47
Diffuse scleroderma, with report of a case showing multiple lesions. (14852204)
1951
48
Esophageal lesions in diffuse scleroderma. (18113050)
1949
49
Clinical study of visceral lesions and endocrine disturbances in eight cases with diffuse scleroderma. (18100851)
1948
50
Diffuse scleroderma with involvement of the heart; report of a case. (20286355)
1947

Variations for Diffuse Scleroderma

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Expression for genes affiliated with Diffuse Scleroderma

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Search GEO for disease gene expression data for Diffuse Scleroderma.

Pathways for genes affiliated with Diffuse Scleroderma

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Pathways related to Diffuse Scleroderma according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6KNG1, CTGF
29.5CAV1, TGFB1
3
Show member pathways
ALK1 pathway38
9.5TGFB1, CAV1
49.4HLA-DRB1, TGFB1
59.4TGFB1, HLA-DRB1
69.3KNG1, TGFB1
7
Show member pathways
9.3KNG1, TGFB1
89.3TGFB1, BMP6
99.2TGFB1, CAV1, CTGF
10
Show member pathways
9.1CAV1, TGFB1, HLA-DRB1
11
Show member pathways
9.0CTGF, BMP6, TGFB1
129.0TGFB1, CTGF, BMP6
13
Show member pathways
9.0TGFB1, CTGF, BMP6
14
Show member pathways
9.0TGFB1, CTGF, BMP6
15
Show member pathways
8.7CAV1, CTGF, TGFB1, BMP6
16
Show member pathways
8.6BMP6, TGFB1, CCR6, CTGF
17
Show member pathways
8.6TGFB1, BMP6, CTGF, CCR6
18
Show member pathways
8.6TGFB1, CTGF, BMP6, CCR6
19
Show member pathways
8.6CTGF, BMP6, TGFB1, HLA-DRB1

Compounds for genes affiliated with Diffuse Scleroderma

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Compounds related to Diffuse Scleroderma according to GeneCards/GeneDecks:

(show top 50)    (show all 71)
idCompoundScoreTop Affiliating Genes
1des-arg(10)-kallidin4510.1CTGF, KNG1
2kallidin45 3011.0CTGF, KNG1
3aristolochic acid45 310.9CTGF, TGFB1
4tranilast459.7BMP6, TGFB1
5ramipril45 1310.7KNG1, TGFB1
6pirfenidone45 6110.7BMP6, TGFB1
7simvastatin45 51 61 30 26 1314.7CTGF, CAV1, BMP6
85-aza-2deoxycytidine459.7BMP6, CAV1, CTGF
9perindopril45 51 1311.7KNG1, TGFB1
10vitamin e succinate459.6BMP6, TGFB1
11pmma459.6BMP6, TGFB1
12agar459.6BMP6, CAV1, CTGF
13cytochalasin d45 6110.6TGFB1, CAV1, CTGF
14hmba459.5BMP6, TGFB1
15carbachol45 30 1311.5KNG1, CAV1, BMP6
16ang ii459.4CTGF, KNG1, TGFB1
17hydroxyproline45 26 1311.4TGFB1, BMP6, CTGF
18enalapril45 51 1311.4KNG1, BMP6
19procollagen459.4CTGF, BMP6, TGFB1
20tgf beta1459.4TGFB1, BMP6, CTGF
21verapamil45 30 51 26 1313.4KNG1, CAV1, TGFB1
22candesartan45 51 30 1312.3TGFB1, KNG1
23rantes459.2TGFB1, CCR6, BMP6
24sodium nitroprusside459.2TGFB1, BMP6, KNG1
25prostacyclin459.2BMP6, CAV1, KNG1, CTGF
26methotrexate51 45 1311.2HLA-DRB1, TGFB1, BMP6
27matrigel459.2CAV1, BMP6, TGFB1
28heparin45 30 26 1312.2CTGF, KNG1, CAV1, BMP6
29aspirin45 51 30 2612.1KNG1, BMP6, TGFB1
30ribonucleic acid459.1CTGF, BMP6, TGFB1
31bleomycin45 1310.1TGFB1, BMP6, CAV1, CTGF
32ly294002459.1TGFB1, BMP6, CAV1, CTGF
33cyclosporin a45 30 6111.1TGFB1, BMP6, CAV1, CTGF
34phosphatidylinositol459.0BMP6, CAV1, KNG1, CTGF
35dexamethasone45 51 30 1312.0TGFB1, BMP6, CAV1, CTGF
36nitric oxide45 26 1311.0CTGF, KNG1, CAV1, BMP6
37losartan45 51 30 1311.9CTGF, KNG1, BMP6, TGFB1
38nifedipine45 30 51 1311.9CTGF, KNG1, BMP6, TGFB1
39sb 20358045 619.9CTGF, BMP6, TGFB1
40pge2458.9TGFB1, BMP6, KNG1, CTGF
41threonine458.9TGFB1, BMP6, CAV1, CTGF
42indomethacin45 30 61 1311.9KNG1, BMP6, TGFB1
43tamoxifen45 51 30 1311.7CAV1, BMP6, TGFB1
44alanine458.7HLA-DRB1, TGFB1, BMP6, CAV1
45oligonucleotide458.6HLA-DRB1, TGFB1, BMP6, CAV1, CTGF
46arginine458.6KNG1, CAV1, FBL, HLA-DRB1
47cycloheximide458.6CTGF, KNG1, CAV1, BMP6, TGFB1
48vegf458.3TGFB1, IRF5, CCR6, BMP6, CAV1, CTGF
49tyrosine458.3HLA-DRB1, IRF5, BMP6, CAV1, KNG1, CTGF
50serine457.8FBL, TGFB1, BMP6, CAV1, KNG1, CTGF

GO Terms for genes affiliated with Diffuse Scleroderma

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Cellular components related to Diffuse Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle membraneGO:00306669.7CAV1, HLA-DRB1
2platelet alpha granule lumenGO:00310939.0KNG1, TGFB1
3plasma membraneGO:00058867.7CTGF, HLA-DRB1, TGFB1, CCR6, CAV1, KNG1

Biological processes related to Diffuse Scleroderma according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of collagen biosynthetic processGO:00329679.8CTGF, TGFB1
2response to progesteroneGO:00325709.8TGFB1, CAV1
3positive regulation of peptidyl-serine phosphorylationGO:00331389.7CAV1, TGFB1
4response to woundingGO:00096119.7CTGF, TGFB1
5negative regulation of T cell proliferationGO:00421309.7TGFB1, HLA-DRB1
6positive regulation of protein secretionGO:00507149.6BMP6, TGFB1
7positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.6TGFB1, BMP6
8interferon-gamma-mediated signaling pathwayGO:00603339.6HLA-DRB1, IRF5
9response to glucoseGO:00097499.6CTGF, TGFB1
10positive regulation of bone mineralizationGO:00305019.6TGFB1, BMP6
11T cell costimulationGO:00312959.6CAV1, HLA-DRB1
12positive regulation of epithelial cell proliferationGO:00506799.4TGFB1, BMP6
13immune responseGO:00069559.3HLA-DRB1, CCR6, BMP6
14MAPK cascadeGO:00001659.2CAV1, TGFB1
15positive regulation of apoptotic processGO:00430659.2KNG1, IRF5, TGFB1
16inflammatory responseGO:00069549.0KNG1, BMP6, TGFB1
17blood coagulationGO:00075969.0KNG1, CAV1, TGFB1

Molecular functions related to Diffuse Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00080839.0CTGF, BMP6, TGFB1

Products for genes affiliated with Diffuse Scleroderma

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Sources for Diffuse Scleroderma

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet