DCSSC
MCID: DFF003
MIFTS: 56

Diffuse Scleroderma (DCSSC) malady

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

Summaries for Diffuse Scleroderma

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34MalaCards
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MalaCards: Diffuse Scleroderma, also known as diffuse cutaneous systemic scleroderma, is related to systemic scleroderma and interstitial lung disease, and has symptoms including osteolysis/osteoclasia/bone destruction/erosions, articular/joint pain/arthralgia and arthritis/synovitis/synovial proliferation. 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, lung and bone, and related mouse phenotype homeostasis/metabolism.

Aliases & Classifications for Diffuse Scleroderma

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 50Orphanet, 63UMLS, 36MeSH, 59SNOMED-CT, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
diffuse cutaneous systemic scleroderma:
Inheritance: Multigenic/multifactorial,Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

diffuse scleroderma 9 44 63
diffuse cutaneous systemic scleroderma 44 50
diffuse cutaneous systemic sclerosis 44 50
diffuse systemic sclerosis 9 44
progressive cutaneous systemic scleroderma 50
progressive cutaneous systemic sclerosis 50
systemic sclerosis, diffuse 9
sudden onset scleroderma 44
dcssc 44


External Ids:

Disease Ontology9 DOID:1580
SNOMED-CT via Orphanet60 128460000
ICD10 via Orphanet27 M34.0

Related Diseases for Diffuse Scleroderma

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Diffuse Scleroderma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1systemic scleroderma30.4CTGF, IRF5
2interstitial lung disease30.3BMP6, TGFB1
3pulmonary fibrosis30.2CTGF, CAV1, BMP6, TGFB1, FBL
4systemic lupus erythematosus30.2IRF5, FBL, HLA-DRB1
5hepatitis30.1TGFB1, HLA-DRB1
6skin disease30.1TGFB1, HLA-DRB1
7connective tissue disease30.1TGFB1, HLA-DRB1
8hypertension30.1KNG1, CAV1, TGFB1
9arthritis30.0HLA-DRB1, TGFB1, KNG1, CTGF
10ovarian cancer30.0TGFB1, BMP6, CAV1, CTGF
11breast cancer29.9CTGF, CAV1, BMP6, CCR6, TGFB1
12rheumatoid arthritis29.8HLA-DRB1, IRF5, CCR6, BMP6, CTGF
13scleroderma11.0
14lupus erythematosus10.3
15esophagitis10.3
16microscopic polyangiitis10.2
17telangiectasis10.1FBL, BMP6
18hereditary hemorrhagic telangiectasia10.1BMP6, TGFB1
19gastric antral vascular ectasia10.1
20steatorrhea10.1
21actinomycosis10.1
22autoimmune hepatitis10.1
23hepatitis a10.1
24mixed connective tissue disease10.1
25papular mucinosis10.1
26cytomegalovirus infection10.1
27headache10.1
28endotheliitis10.1
29atlantoaxial subluxation10.1
30ureteral disease10.1CTGF, TGFB1
31myelofibrosis10.1BMP6, TGFB1
32gingival overgrowth10.1CTGF, TGFB1
33biliary atresia10.1CTGF, TGFB1
34malaria10.1KNG1, HLA-DRB1
35bone carcinoma10.0CAV1, BMP6
36hepatitis b10.0HLA-DRB1, TGFB1
37malignant glioma10.0TGFB1, BMP6, KNG1
38hypertrophic scars10.0TGFB1, BMP6, CTGF
39proliferative vitreoretinopathy10.0CTGF, BMP6, TGFB1
40iga glomerulonephritis10.0BMP6, TGFB1
41keloids10.0CTGF, BMP6, TGFB1
42glomerulosclerosis10.0TGFB1, BMP6, CTGF
43primary hyperoxaluria10.0CTGF, KNG1, TGFB1
44idiopathic pulmonary fibrosis10.0CTGF, BMP6, TGFB1
45crohn's disease10.0
46limited scleroderma10.0
47thrombotic thrombocytopenic purpura10.0
48polyarteritis nodosa10.0
49subcorneal pustular dermatosis10.0
50aplastic anemia10.0

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



Diseases related to diffuse scleroderma

Symptoms for Diffuse Scleroderma

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50Orphanet
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Symptoms:

50 (show all 31)
  • 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
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • muscle weakness/flaccidity
  • 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
  • anomalies of skin, subcutaneous tissue and mucosae

Drugs & Therapeutics for Diffuse Scleroderma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Diffuse Scleroderma

Drug clinical trials:

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Search NIH Clinical Center for Diffuse Scleroderma

Search CenterWatch for Diffuse Scleroderma

Genetic Tests for Diffuse Scleroderma

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Anatomical Context for Diffuse Scleroderma

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34MalaCards
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MalaCards organs/tissues related to Diffuse Scleroderma:

34
Skin, Lung, Bone, Heart, Kidney, Skeletal muscle, Breast

Animal Models for Diffuse Scleroderma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Diffuse Scleroderma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.9CTGF, KNG1, CAV1, CCR6, IRF5, TGFB1

Publications for Diffuse Scleroderma

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53PubMed
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Articles related to Diffuse Scleroderma:

(show top 50)    (show all 78)
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
Immunoelectrophoresis of serum in progressive systemic sclerosis (diffuse scleroderma). (13788679)
1961
38
Acrosclerosis: a disease sui generis or a variety of diffuse scleroderma. (13638459)
1959
39
Esophageal involvement in diffuse scleroderma. (13645796)
1959
40
Diffuse scleroderma; a clinical study of sixty-five cases. (13585869)
1958
41
Musculoskeletal manifestations of systemic lupus erythematosus, polyarteritis nodosa, dermatomyositis and diffuse scleroderma. (13539595)
1958
42
Dental characteristics associated with acrosclerosis and diffuse scleroderma. (13428493)
1957
43
Progressive systemic sclerosis; diffuse scleroderma. (13416610)
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Diffuse Scleroderma

Search GEO for disease gene expression data for Diffuse Scleroderma.

Pathways for genes affiliated with Diffuse Scleroderma

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Sources:
51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters, 52PharmGKB, 31KEGG, 54QIAGEN
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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 pathway39
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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Sources:
46Novoseek, 30IUPHAR, 3BitterDB, 12DrugBank, 62Tocris Bioscience, 52PharmGKB, 25HMDB
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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)-kallidin4610.1CTGF, KNG1
2kallidin46 3011.0CTGF, KNG1
3aristolochic acid46 310.9CTGF, TGFB1
4tranilast469.7BMP6, TGFB1
5ramipril46 1210.7KNG1, TGFB1
6pirfenidone46 6210.7BMP6, TGFB1
7simvastatin46 52 62 30 25 1214.7CTGF, CAV1, BMP6
85-aza-2deoxycytidine469.7BMP6, CAV1, CTGF
9perindopril46 52 1211.7KNG1, TGFB1
10vitamin e succinate469.6BMP6, TGFB1
11pmma469.6BMP6, TGFB1
12agar469.6BMP6, CAV1, CTGF
13cytochalasin d46 6210.6TGFB1, CAV1, CTGF
14hmba469.5BMP6, TGFB1
15carbachol46 30 1211.5KNG1, CAV1, BMP6
16ang ii469.4CTGF, KNG1, TGFB1
17hydroxyproline46 25 1211.4TGFB1, BMP6, CTGF
18enalapril46 52 1211.4KNG1, BMP6
19procollagen469.4CTGF, BMP6, TGFB1
20tgf beta1469.4TGFB1, BMP6, CTGF
21verapamil46 30 52 25 1213.4KNG1, CAV1, TGFB1
22candesartan46 52 30 1212.3TGFB1, KNG1
23rantes469.2TGFB1, CCR6, BMP6
24sodium nitroprusside469.2TGFB1, BMP6, KNG1
25prostacyclin469.2BMP6, CAV1, KNG1, CTGF
26methotrexate52 46 1211.2HLA-DRB1, TGFB1, BMP6
27matrigel469.2CAV1, BMP6, TGFB1
28heparin46 30 25 1212.2CTGF, KNG1, CAV1, BMP6
29aspirin46 52 30 2512.1KNG1, BMP6, TGFB1
30ribonucleic acid469.1CTGF, BMP6, TGFB1
31bleomycin46 1210.1TGFB1, BMP6, CAV1, CTGF
32ly294002469.1TGFB1, BMP6, CAV1, CTGF
33cyclosporin a46 30 6211.1TGFB1, BMP6, CAV1, CTGF
34phosphatidylinositol469.0BMP6, CAV1, KNG1, CTGF
35dexamethasone46 52 30 1212.0TGFB1, BMP6, CAV1, CTGF
36nitric oxide46 25 1211.0CTGF, KNG1, CAV1, BMP6
37losartan46 52 30 1211.9CTGF, KNG1, BMP6, TGFB1
38nifedipine46 30 52 1211.9CTGF, KNG1, BMP6, TGFB1
39sb 20358046 629.9CTGF, BMP6, TGFB1
40pge2468.9TGFB1, BMP6, KNG1, CTGF
41threonine468.9TGFB1, BMP6, CAV1, CTGF
42indomethacin46 30 62 1211.9KNG1, BMP6, TGFB1
43tamoxifen46 52 30 1211.7CAV1, BMP6, TGFB1
44alanine468.7HLA-DRB1, TGFB1, BMP6, CAV1
45oligonucleotide468.6HLA-DRB1, TGFB1, BMP6, CAV1, CTGF
46arginine468.6KNG1, CAV1, FBL, HLA-DRB1
47cycloheximide468.6CTGF, KNG1, CAV1, BMP6, TGFB1
48vegf468.3TGFB1, IRF5, CCR6, BMP6, CAV1, CTGF
49tyrosine468.3HLA-DRB1, IRF5, BMP6, CAV1, KNG1, CTGF
50serine467.8FBL, TGFB1, BMP6, CAV1, KNG1, CTGF

GO Terms for genes affiliated with Diffuse Scleroderma

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17Gene Ontology
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Cellular components related to Diffuse Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle membraneGO:0306669.7CAV1, HLA-DRB1
2platelet alpha granule lumenGO:0310939.0KNG1, TGFB1
3plasma membraneGO:0058867.7CTGF, 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:0329679.8CTGF, TGFB1
2response to progesteroneGO:0325709.8TGFB1, CAV1
3positive regulation of peptidyl-serine phosphorylationGO:0331389.7CAV1, TGFB1
4response to woundingGO:0096119.7CTGF, TGFB1
5negative regulation of T cell proliferationGO:0421309.7TGFB1, HLA-DRB1
6positive regulation of protein secretionGO:0507149.6BMP6, TGFB1
7positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.6TGFB1, BMP6
8interferon-gamma-mediated signaling pathwayGO:0603339.6HLA-DRB1, IRF5
9response to glucoseGO:0097499.6CTGF, TGFB1
10positive regulation of bone mineralizationGO:0305019.6TGFB1, BMP6
11T cell costimulationGO:0312959.6CAV1, HLA-DRB1
12positive regulation of epithelial cell proliferationGO:0506799.4TGFB1, BMP6
13immune responseGO:0069559.3HLA-DRB1, CCR6, BMP6
14MAPK cascadeGO:0001659.2CAV1, TGFB1
15positive regulation of apoptotic processGO:0430659.2KNG1, IRF5, TGFB1
16inflammatory responseGO:0069549.0KNG1, BMP6, TGFB1
17blood coagulationGO:0075969.0KNG1, CAV1, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:0080839.0CTGF, BMP6, TGFB1

Products for genes affiliated with Diffuse Scleroderma

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  • Antibodies
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Sources for Diffuse Scleroderma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet