MCID: ART022
MIFTS: 65

Arthritis malady

Bone diseases, Skin diseases categories

Summaries for Arthritis

About this section


MedlinePlus:32 If you feel pain and stiffness in your body or have trouble moving around, you might have arthritis. most kinds of arthritis cause pain and swelling in your joints. joints are places where two bones meet, such as your elbow or knee. over time, a swollen joint can become severely damaged. some kinds of arthritis can also cause problems in your organs, such as your eyes or skin. types of arthritis include osteoarthritis is the most common type of arthritis. it's often related to aging or to an injury. autoimmune arthritis happens when your body's immune system attacks healthy cells in your body by mistake. rheumatoid arthritis is the most common form of this kind of arthritis. juvenile rheumatoid arthritis is a form of the disease that happens in children. infectious arthritis is an infection that has spread from another part of the body to the joint. psoriatic arthritis affects people with psoriasis. gout is a painful type of arthritis that happens when too much uric acid builds up in the body. it often starts in the big toe. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards based summary: Arthritis, also known as inflammatory joint disease, is related to psoriatic arthritis and juvenile rheumatoid arthritis. An important gene associated with Arthritis is SERPINH1 (serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)), and among its related pathways are Syndecan-1-mediated signaling events and Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The drugs meclofenamate sodium and salsalate and the compounds ilomastat and pentoxifylline have been mentioned in the context of this disorder. Affiliated tissues include joint, skin over the joint and bone, and related mouse phenotypes are limbs/digits/tail and skeleton.

Disease Ontology:9 A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located in joint and/or redness located in skin over the joint.

CDC:3 Arthritis affects 52.5 million U.S. adults, more than 1 in 5. It is the nation’s most common cause of disability. Learn more about arthritis, the proven ways to manage it and the resources available to public health professionals.

Wikipedia:63 Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint... more...

Aliases & Classifications for Arthritis

About this section

Arthritis, Aliases & Descriptions:

Name: Arthritis 30 9 11 43 32 3 60
Inflammatory Joint Disease 43 60
 
Inflammatory Disorder of Joint 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases, Skin diseases


External Ids:

Disease Ontology9 DOID:848
NCIt38 C2883
MeSH33 D001168
ICD1025 M13.8, M13.9

Related Diseases for Arthritis

About this section

Diseases in the Arthritis family:

Transient Arthritis

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

(show top 50)    (show all 1030)
idRelated DiseaseScoreTop Affiliating Genes
1psoriatic arthritis32.5PTPN22, MMP3, MMP1, IL1A
2juvenile rheumatoid arthritis32.4LTA, IL1A, IL6
3rheumatoid arthritis32.3LTA, IL1A, IL6, IL10, MMP1, MMP19
4psoriasis31.9PTPN22, MMP19, IL10, IL6, IL1A, LTA
5systemic lupus erythematosus31.8PTPN22, SERPINH1, MMP3, IL10, IL6, LTA
6uveitis31.7IL10, IL1A, LTA
7synovitis31.7IL1A, IL6, MMP1, MMP8, MMP11, MMP3
8osteoarthritis31.6MMP13, MMP9, MMP12, MMP2, LTA, IL1A
9periodontitis31.6MMP9, MMP8, IL1A
10pneumonia31.6MMP12, MMP8, IL10, IL6
11arthropathy31.5MMP1, MMP3, MMP13
12osteoporosis31.4IL6, MMP8, MMP3, MMP13
13connective tissue disease31.4PTPN22, IL10, IL6
14periodontal disease31.2MMP2, MMP3, MMP1, IL6
15meningitis31.2IL6, MMP9
16gingivitis31.0MMP13, MMP8, MMP1, IL1A
17aggressive periodontitis31.0MMP8, MMP1, IL1A
18atherosclerosis31.0MMP9, MMP12, MMP2, MMP3, MMP10, MMP8
19asthma31.0MMP9, MMP12, MMP3, MMP8, IL10
20lymphopenia30.9PTPN22, IL10, IL6
21kawasaki disease30.9MMP3, MMP9
22pulmonary fibrosis30.9SERPINH1, MMP13, MMP9, MMP2, MMP1
23visceral leishmaniasis30.9LTA, IL10
24inflammatory bowel disease30.9PTPN22, MMP13, MMP3, MMP1, IL10, IL6
25ulcerative colitis30.8MMP13, MMP3, MMP1, IL10, IL6, IL1A
26vascular disease30.8MMP2, MMP3, IL10, IL6, IL1A
27tonsillitis30.8IL1A, LTA
28graves' disease30.7PTPN22, IL1A, LTA
29skin disease30.7IL1A, IL10, MMP1
30aneurysm30.7MMP9, MMP12, MMP2, MMP3, MMP8
31dermatitis herpetiformis30.7MMP12, MMP3
32atopic dermatitis30.6LTA, IL1A, IL10
33melanoma30.5MMP13, MMP9, MMP12, MMP2, MMP11, MMP1
34systemic scleroderma30.5PTPN22, SERPINH1, MMP12, MMP3, MMP1, IL1A
35breast cancer30.5MMP13, MMP9, MMP2, MMP3, MMP17, MMP11
36diverticulitis30.4MMP13
37thoracic aortic aneurysm30.4MMP2, MMP1
38tongue cancer30.4MMP9, MMP2, MMP8
39chorioamnionitis30.4IL6, MMP8, SERPINH1
40lepromatous leprosy30.3IL10, LTA
41bacterial vaginosis30.3SERPINH1, IL1A
42keratoconus30.2MMP2, MMP3, MMP10, MMP8, MMP1
43adenocarcinoma30.2MMP13, MMP9, MMP12, MMP2, MMP11, MMP10
44coronary artery disease30.1LTA, IL6, MMP8
45hepatocellular carcinoma30.1MMP9, MMP12, MMP2, MMP15, IL6
46septic arthritis11.1
47reactive arthritis11.1
48lupus erythematosus10.9
49spondylitis10.8
50systemic onset juvenile idiopathic arthritis10.8

Graphical network of the top 20 diseases related to Arthritis:



Diseases related to arthritis

Symptoms for Arthritis

About this section

Drugs & Therapeutics for Arthritis

About this section

Drug clinical trials:

Search ClinicalTrials for Arthritis

Search NIH Clinical Center for Arthritis

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Arthritis

About this section

Anatomical Context for Arthritis

About this section

MalaCards organs/tissues related to Arthritis:

31
Bone, T cells, Monocytes, Endothelial, Skin, Neutrophil, B cells, Lung, Testes, Bone marrow, Eye, Heart, Myeloid, Thyroid, Liver, Whole blood, Pituitary, Kidney, Breast, Lymph node, Spleen, Spinal cord, Tonsil, Colon, Nk cells, Tongue, Brain, Salivary gland, Thymus, Small intestine, Retina, Smooth muscle, Skeletal muscle, Placenta, Prostate, Cervix

FMA organs/tissues related to Arthritis:

14
Joint, Skin over the joint

Animal Models for Arthritis or affiliated genes

About this section

Publications for Arthritis

About this section

Articles related to Arthritis:

(show top 50)    (show all 11437)
idTitleAuthorsYear
1
Association of neopterin as a marker of immune system activation and juvenile rheumatoid arthritis activity. (25727025)
2015
2
JAK/STAT/PKCI' molecular pathways in synovial fluid T lymphocytes reflect the in vivo T helper-17 expansion in psoriatic arthritis. (24385089)
2014
3
Does Socioeconomic Status Affect Outcomes in Early Inflammatory Arthritis? Data from a Canadian Multisite Suspected Rheumatoid Arthritis Inception Cohort. (25399388)
2014
4
Three Cases of Postoperative Septic Arthritis Caused by Mycobacterium conceptionense in Shoulder Joints of Immunocompetent Patients. (24391195)
2014
5
Risk of venous thromboembolism in patients with rheumatoid arthritis: a systematic review and meta-analysis. (24424839)
2014
6
Periarticular bone gain at proximal interphalangeal joints and changes in bone turnover markers in response to tumor necrosis factor inhibitors in rheumatoid and psoriatic arthritis. (23457381)
2013
7
Rituximab and abatacept but not tocilizumab impair antibody response to pneumococcal conjugate vaccine in patients with rheumatoid arthritis. (24286269)
2013
8
Psoriasis and psoriatic arthritis video project: an update from the 2012 GRAPPA annual meeting. (23908546)
2013
9
Impact of temporomandibular joint pain in rheumatoid arthritis. (24363501)
2013
10
Identification of anticitrullinated protein antibody reactivities in a subset of anti-CCP-negative rheumatoid arthritis: association with cigarette smoking and HLA-DRB1 'shared epitope' alleles. (24297382)
2013
11
Enhanced HMGB1 expression may contribute to Th17 cells activation in rheumatoid arthritis. (22110531)
2012
12
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) with E250K mutation in CD2BP1 gene treated with the tumor necrosis factor inhibitor adalimumab. (22513199)
2012
13
Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus. (22127698)
2011
14
Interleukin-18: a mediator of inflammation and angiogenesis in rheumatoid arthritis. (21864160)
2011
15
An endocrinologist's view on relative adrenocortical insufficiency in rheumatoid arthritis. (20398019)
2010
16
Accelerated atherosclerosis in rheumatoid arthritis: rationale for mannose-binding lectins? (20197564)
2010
17
Investigation of genetic variants within candidate genes of the TNFRSF1B signalling pathway on the response to anti-TNF agents in a UK cohort of rheumatoid arthritis patients. (19262425)
2009
18
Purpura fulminans in a patient with rheumatoid arthritis. (19997707)
2009
19
Defective phosphorylation of interleukin-18 receptor beta causes impaired natural killer cell function in systemic-onset juvenile idiopathic arthritis. (19714583)
2009
20
Update on the management of pain in arthritis and the use of cyclooxygenase-2 inhibitors. (19889287)
2009
21
Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. (18311812)
2008
22
Overexpression of toll-like receptors 3 and 4 in synovial tissue from patients with early rheumatoid arthritis: toll-like receptor expression in early and longstanding arthritis. (19035519)
2008
23
Analysis of factors influencing prognosis in foals with septic arthritis. (21851707)
2008
24
Large pericardial effusion requiring pericardiocentesis as cardinal sign of macrophage activation syndrome in systemic onset-juvenile idiopathic arthritis. (17160383)
2007
25
What is after cytokine-blocking therapy, a novel therapeutic target-- synovial Epstein-Barr virus for rheumatoid arthritis. (17289546)
2007
26
Interleukin-15 selectively expands CD57+ CD28- CD4+ T cells, which are increased in active rheumatoid arthritis. (17644042)
2007
27
High levels of inflammatory chemokines and cytokines in joint fluid and synovial tissue throughout the course of antibiotic-refractory lyme arthritis. (17393419)
2007
28
Interleukin-1beta influences the effect of infliximab on temporomandibular joint pain in rheumatoid arthritis. (16766364)
2006
29
New immunoserological tests and pathogenesis for rheumatoid arthritis]. (16190360)
2005
30
TNF inhibitors for inflammatory arthritis in New Zealand. (16258581)
2005
31
Synthesis and activity of substituted 4-(indazol-3-yl)phenols as pathway-selective estrogen receptor ligands useful in the treatment of rheumatoid arthritis. (15588074)
2004
32
Novel approaches to gene expression analysis of active polyarticular juvenile rheumatoid arthritis. (14979934)
2004
33
Streptococcal toxic shock syndrome and sepsis manifesting in a patient with chronic rheumatoid arthritis. (15347489)
2004
34
Twenty eight joint count disease activity score in recent onset rheumatoid arthritis using C reactive protein instead of erythrocyte sedimentation rate. (12810437)
2003
35
Lack of association between juvenile idiopathic arthritis and fas gene polymorphism. (11824955)
2002
36
Expression of interleukin-18 and its monokine-directed function in rheumatoid arthritis. (11285378)
2001
37
Blau syndrome (familial granulomatous arthritis, iritis, and rash) in an african-american family. (19078446)
2000
38
What's new in the diagnosis and treatment of juvenile rheumatoid arthritis. (10912594)
2000
39
Genetic association between rheumatoid arthritis and estrogen receptor microsatellite polymorphism. (10914844)
2000
40
Juvenile rheumatoid arthritis in a Canadian First Nations (aboriginal) population: onset subtypes and HLA associations. (9558186)
1998
41
Heat shock proteins as potential targets in the therapy of inflammatory arthritis. (9559974)
1998
42
Geographic choroiditis and retinal vasculitis in rheumatoid arthritis. (9537875)
1998
43
Complement components C1q, C1r/C1s, and C1INH in rheumatoid arthritis. Correlation of in situ hybridization and northern blot results with function and protein concentration in synovium and primary cell cultures. (7718002)
1995
44
Cytokine levels in serum and synovial fluid of patients with juvenile rheumatoid arthritis. (7699643)
1994
45
New directions for biological therapy in rheumatoid arthritis. (8199454)
1994
46
Circulating concentrations and production of cytokines and soluble receptors in rheumatoid arthritis patients: effects of a single dose methotrexate. (7981988)
1994
47
The effect of plasmapheresis on the function of the calcium-regulating systems in patients with rheumatoid arthritis]. (1887430)
1991
48
Studies on the metabolism of D-penicillamine and its interaction with probenecid in cystinuria and rheumatoid arthritis. (6481720)
1984
49
Alkaptonuria, ochronosis, and arthritis in a Cypriot woman. (13938285)
1963
50
Intestinal perforation and widespread arteritis in rheumatoid arthritis during treatment with cortisone. (13629041)
1959

Variations for Arthritis

About this section

Expression for genes affiliated with Arthritis

About this section
Search GEO for disease gene expression data for Arthritis.

Pathways for genes affiliated with Arthritis

About this section

Pathways related to Arthritis according to GeneCards Suite gene sharing:

(show all 33)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3MMP1, MMP9
210.3MMP1, MMP2
310.3MMP9, MMP2
410.2LTA, IL10
510.2MMP1, MMP3, MMP9
6
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells58
Oncostatin M Signaling Pathway36
10.2MMP1, MMP3, MMP13
710.2MMP9, MMP13, SERPINH1
810.2MMP9, MMP2, IL6
910.2MMP9, MMP2, IL6
1010.2MMP2, MMP9, MMP13
11
Show member pathways
IL23-mediated signaling events36
Immune response IL 10 signaling pathway58
Angiopoietin receptor Tie2-mediated signaling36
Development PDGF signaling via STATs and NF kB58
Development Angiopoietin Tie2 signaling58
10.2IL6, IL10, MMP2
12
Show member pathways
Apoptosis and survival TNFR1 signaling pathway58
TWEAK Signaling Pathway36
Apoptosis Modulation by HSP7036
HIV-1 Nef- Negative effector of Fas and TNF-alpha36
10.1LTA, IL6, MMP9
1310.1MMP9, IL6, IL1A
14
Show member pathways
IL27-mediated signaling events36
10.1LTA, IL6, IL10
1510.1IL10, IL6, IL1A
1610.1IL1A, IL6, IL10
1710.1IL1A, IL6, IL10
1810.1IL1A, IL6, IL10
19
Show member pathways
Transcription NF kB signaling pathway58
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response58
10.1IL6, IL1A, LTA
20
Show member pathways
10.1SERPINH1, MMP13, MMP9, MMP3
2110.1IL6, MMP1, MMP2, MMP9
2210.1IL6, MMP1, MMP2, MMP9
2310.1MMP3, MMP1, IL6, IL1A
2410.1MMP9, MMP3, IL6, LTA
25
Show member pathways
10.0LTA, IL1A, IL6, IL10
2610.0IL10, IL6, IL1A, LTA
27
Show member pathways
9.9LTA, IL1A, IL6, IL10, PTPN22
289.8MMP9, MMP12, MMP2, MMP11, MMP1, IL6
29
Show member pathways
9.3MMP2, MMP12, MMP9, MMP13, MMP3, MMP11
30
Show member pathways
9.2MMP13, MMP9, MMP12, MMP2, MMP3, MMP11
31
Show member pathways
Metalloproteases in connective tissue degradation
9.2MMP13, MMP15, MMP1, MMP19, MMP8, MMP10
32
Show member pathways
9.0MMP17, MMP3, MMP2, MMP12, MMP9, MMP13
33
Show member pathways
8.9MMP15, MMP1, MMP19, MMP8, MMP10, MMP11

Compounds for genes affiliated with Arthritis

About this section

Compounds related to Arthritis according to GeneCards Suite gene sharing:

(show top 50)    (show all 160)
idCompoundScoreTop Affiliating Genes
1ilomastat4310.4MMP9, MMP1, MMP3, MMP2
2pentoxifylline43 1211.4IL10, IL6, IL1A, LTA
3latanoprost43 1211.4MMP9, MMP2, MMP3, MMP1
4clodronate43 49 1212.3MMP1, IL6, IL10, MMP8, MMP13
5cgs-27023a4310.3MMP9, MMP2, MMP1
6alendronate43 49 1212.3MMP8, MMP3, MMP2, MMP13, MMP1
7rantes4310.2IL1A, IL10, MMP1, MMP3, MMP9, MMP13
8etanercept43 49 1212.2MMP3, MMP12, LTA, IL6, IL10, MMP1
9doxycycline43 1211.2MMP13, MMP3, MMP9, MMP2, MMP8, MMP1
10hydroxamate4310.2MMP13, MMP9, MMP12, MMP2, MMP3, MMP1
11infliximab43 49 1212.2IL6, IL10, MMP1, LTA, MMP3
12ivig4310.2LTA, MMP2, IL1A, MMP9, IL6, IL10
13procollagen4310.2MMP3, MMP2, MMP9, SERPINH1, IL1A, MMP1
14(4-aminophenyl)mercuric acetate4310.2MMP13, MMP9, MMP2, MMP8, MMP1, MMP10
15ibuprofen43 28 49 24 1214.2IL10, MMP1, MMP2, IL6, MMP3
16tetracycline43 1211.2IL1A, MMP8, MMP2, MMP9, MMP1, MMP13
17glycosaminoglycan4310.1MMP13, MMP9, MMP3, MMP8, MMP1, IL1A
18aprotinin43 1211.1MMP13, MMP9, IL10, MMP2, MMP1, IL6
19n-isobutyl-n-[4-methoxyphenylsulfonyl]glycyl hydroxamic acid43 1211.1MMP10, MMP3, MMP12
20prednisolone43 28 1212.1MMP1, LTA, IL6, IL10, MMP13, MMP2
21egcg4310.1MMP3, MMP1, IL1A, MMP2, MMP13, MMP9
22pdtc4310.1MMP9, MMP2, MMP1, IL6, IL1A
23curcumin4310.1IL6, MMP13, MMP2, MMP3, MMP1, MMP9
24herbimycin a43 5911.1MMP9, MMP2, MMP13, MMP1, IL1A, LTA
25tgf beta14310.1LTA, IL6, MMP1, MMP3, MMP13, MMP2
26hyaluronic acid43 2411.0IL1A, MMP13, MMP9, MMP2, MMP3, LTA
27prostaglandin4310.0IL1A, MMP1, MMP9, MMP3, MMP13, IL6
28sb 20358043 5911.0IL1A, MMP13, MMP3, IL6, MMP2, MMP9
29matrigel4310.0MMP13, MMP9, MMP12, MMP2, MMP3, MMP10
30genistein43 28 59 2 24 1214.9MMP12, MMP13, MMP9, MMP2, MMP3, MMP8
31cyclosporin a43 28 5911.9IL1A, IL6, IL10, MMP1, MMP8, MMP3
32paraffin439.9MMP2, MMP9, LTA, IL10, MMP1, MMP13
33methotrexate49 43 1211.9IL10, IL6, MMP2, MMP9, MMP3, MMP1
34cycloheximide439.9MMP3, MMP9, MMP2, MMP1, IL10, IL6
3512-o-tetradecanoylphorbol 13-acetate439.9MMP13, MMP9, MMP2, MMP3, LTA, IL1A
36pge2439.8MMP2, MMP3, MMP9, MMP13, MMP8, MMP1
37dexamethasone43 49 28 1212.8MMP9, MMP12, MMP3, MMP1, IL10, IL6
38progesterone43 28 59 24 1213.8IL1A, MMP8, MMP2, MMP3, MMP11, LTA
39lactate439.7IL6, MMP1, MMP8, MMP3, MMP2, MMP9
40pravastatin43 49 28 24 1213.7MMP1, MMP2, MMP3, IL6, IL1A
41retinoic acid43 2410.6MMP13, LTA, MMP9, IL1A, BST1, IL6
42oligonucleotide439.6MMP13, MMP1, MMP8, SERPINH1, MMP10, LTA
43gi 254023x599.5MMP8, MMP19, MMP1, MMP15, MMP3, MMP13
44gm 6001599.5MMP19, MMP1, MMP15, MMP8, MMP10, MMP13
45serine439.5IL1A, MMP2, MMP1, MMP8, MMP10, MMP11
46marimastat43 59 1211.5MMP13, MMP9, MMP12, MMP2, MMP3, MMP17
47batimastat43 59 1211.5MMP15, MMP1, MMP19, MMP9, MMP12, MMP2
48uk 383367599.5MMP13, MMP12, MMP2, MMP3, MMP17, MMP11
49vegf439.3MMP8, MMP10, MMP11, MMP3, MMP2, MMP12
50calcium43 49 24 1212.2MMP3, LTA, BST1, MMP13, MMP9, MMP12

GO Terms for genes affiliated with Arthritis

About this section

Cellular components related to Arthritis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055769.1MMP3, MMP2, MMP12, MMP9, MMP11, MMP10
2proteinaceous extracellular matrixGO:00055789.1MMP1, MMP13, MMP9, MMP12, MMP2, MMP3
3extracellular spaceGO:00056159.0MMP2, MMP9, MMP13, SERPINH1, MMP3, MMP10

Biological processes related to Arthritis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of growth of symbiont in hostGO:004413010.2LTA, IL10
2humoral immune responseGO:00069599.8LTA, IL6, BST1
3proteolysisGO:00065089.4MMP13, MMP9, MMP12, MMP2, MMP3, MMP11
4collagen catabolic processGO:00305749.2MMP12, MMP2, MMP3, MMP11, MMP10, MMP8
5extracellular matrix disassemblyGO:00226179.2MMP13, MMP9, MMP12, MMP2, MMP3, MMP11
6extracellular matrix organizationGO:00301989.0MMP12, MMP2, MMP3, MMP11, MMP10, MMP8

Molecular functions related to Arthritis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:000512510.0LTA, IL1A, IL6, IL10
2metalloendopeptidase activityGO:00042229.0MMP15, MMP13, MMP9, MMP12, MMP2, MMP3
3calcium ion bindingGO:00055098.9MMP13, MMP12, MMP3, MMP17, MMP11, MMP10
4zinc ion bindingGO:00082708.9MMP3, MMP2, MMP12, MMP9, MMP13, MMP17

Products for genes affiliated with Arthritis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Arthritis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet