KD
MCID: KWS002
MIFTS: 74

Kawasaki Disease (KD) malady

Nephrological diseases, Bone diseases, Immune diseases categories

Summaries for Kawasaki Disease

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MedlinePlus:33 Kawasaki disease is a rare childhood disease. it makes the walls of the blood vessels in the body become inflamed. it can affect any type of blood vessel, including the arteries, veins, and capillaries. no one knows what causes kawasaki disease. symptoms include high fever that lasts longer than 5 days swollen lymph nodes in the neck a rash on the mid-section and genital area red, dry, cracked lips and a red, swollen tongue red, swollen palms of the hands and soles of the feet redness of the eyes kawasaki disease can't be passed from one child to another. there is no single test. to diagnose it, doctors look at the signs and symptoms. they may also use an echocardiogram or other tests. it is mainly treated with medicines. rarely, medical procedures and surgery also may be used for children whose coronary arteries are affected. kawasaki disease can't be prevented. however, most children who develop the disease fully recover - usually within weeks of getting signs and symptoms. further problems are rare. nih: national heart, lung, and blood institute

MalaCards: Kawasaki Disease, also known as mucocutaneous lymph node syndrome, is related to coronary artery disease and aneurysm disease, and has symptoms including heart/cardiac failure, angor pectoris/myocardial infarction and cardiac rhythm disorder/arrhythmia. An important gene associated with Kawasaki Disease is ITPKC (inositol-trisphosphate 3-kinase C), and among its related pathways are Cell adhesion Cell-matrix glycoconjugates and Cell adhesion ECM remodeling. The compounds lactate and creatinine have been mentioned in the context of this disorder. Affiliated tissues include lymph node, tongue and eye, and related mouse phenotypes are immune system and homeostasis/metabolism.

Genetics Home Reference:21 Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young children. Affected children develop a prolonged fever lasting several days, a skin rash, and swollen lymph nodes in the neck (cervical lymphadenopathy). They also develop redness in the whites of the eyes (conjunctivitis) and redness (erythema) of the lips, lining of the mouth (oral mucosa), tongue, palms of the hands, and soles of the feet.

NIH Rare Diseases:42 Kawasaki syndrome is a condition that involves inflammation of the blood vessels. it is typically diagnosed in young children, but older children and adults can also develop this condition.  kawasaki syndrome is usually accompanied by a fever that lasts at least 5 days. other classic symptoms may include red eyes, lips, and mouth; rash; swollen and red hands and feet; and swollen lymph nodes. kawasaki syndrome occurs most often in people of asian and pacific island descent. last updated: 1/12/2009

Wikipedia:63 For other uses see Kawasaki more...

Description from OMIM:46 611775

Aliases & Classifications for Kawasaki Disease

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 34MeSH, 56SNOMED-CT, 27ICD9CM, 39NCIt, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
kawasaki disease:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

kawasaki disease 8 42 21 46 10 44 48 33
mucocutaneous lymph node syndrome 8 42 21 48 60
acute febrile mucocutaneous lymph node syndrome 8 21
kawasaki syndrome 42 21
acute febrile mucocutaneous lymph node syndrome nos 8
kawasaki disease, susceptibility to 9
kawasaki's disease 8
acute febrile mcls 8
mlns 8
kd 21


External Ids:

Disease Ontology8 DOID:13378
MeSH34 D009080
OMIM46 611775
ICD9CM27 446.1
NCIt39 C34825
ICD10 via Orphanet26 M30.3
ICD1025 M30.3

Related Diseases for Kawasaki Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Kawasaki Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 392)
idRelated DiseaseScoreTop Affiliating Genes
1coronary artery disease31.5SELE, CCL2, MMP9, MMP3, HSPD1, NPPB
2aneurysm disease31.4ELANE, SELL, MMP3, MMP9
3vascular disease30.9MMP9, CRP, HSPD1, ELANE, SELE, CCL2
4rheumatic fever30.6CRP, MBL2
5cervicitis30.6HSPD1
6arthritis30.5TIMP1, MMP3, SELL
7vasculitis30.5ELANE, SELE, SELL, ITPKC, CRP, MBL2
8myocardial infarction30.4SELL, CIITA, CRP, NPPB, ADM
9ischemia30.4ADM, SELE, MMP3, CIITA, NPPB
10uveitis30.4HSPD1, CCL2
11acute myocardial infarction30.3MMP9, CRP, SELE, ADM, NPPB
12myocarditis30.3CIITA, NPPB
13atherosclerosis30.2SELL, MMP9, MMP3, MYD88, CIITA, CRP
14systemic lupus erythematosus30.2FCER2, CIITA, CRP, MMP3, CCL2, MBL2
15pneumonia30.2CCL2, MBL2, CRP, MYD88, SELL, ADM
16skin disease30.2FCER2, CIITA, SELL, SELE
17aortic aneurysm30.2CRP
18leukemia30.2SELL, FCER2, MBL2
19hepatitis c30.2CIITA, GPT, TIMP1
20obesity30.1MMP3, SELL, CRP, SELE, CCL2, GPT
21hyperglycemia30.1CRP, SELE
22liver cirrhosis30.1MMP3, ADM, TIMP1, GPT
23breast cancer30.1SELL, MMP3, MMP9, CIITA, ADM, TIMP1
24psoriasis30.1CIITA, S100A12, ELANE, SELE, CCL2, FCER2
25meningitis30.1MBL2, CRP, MMP9
26toxic shock syndrome30.1CIITA
27measles30.1CIITA
28inflammatory bowel disease30.0SELE, ELANE, CRP, SELL, MMP3, CCL2
29ulcerative colitis30.0SELL, MMP3, ELANE, SELE, CRP
30cystic fibrosis30.0ELANE, MBL2
31thyroiditis30.0MBL2, CIITA
32celiac disease30.0CIITA
33gastritis30.0HSPD1
34rheumatoid arthritis29.9HSPD1, ELANE, SELE, SELL, FCER2, MMP9
35asthma29.9ADM, MBL2, S100A12, CCL2, TIMP1, SELE
36diabetes mellitus29.9SELE, SELL, GPT, MMP9, MMP3, CRP
37hypertension29.9CCL2, NPPB, SELE, CRP, MMP9, ADM
38atopic dermatitis29.9SELE, FCER2, CCL2, SELL, TIMP1
39acute pancreatitis29.9ELANE, GPT, CRP
40influenza29.9MBL2, MYD88, CIITA
41pancreatitis29.9CRP, ELANE
42neutropenia29.9ELANE, GPT, MBL2
43encephalitis29.9CIITA, CCL2
44dermatitis29.9SELE
45pyelonephritis29.9CRP
46acute pyelonephritis29.9CRP
47acquired immunodeficiency syndrome29.9CCL3L1
48appendicitis29.9CRP
49disseminated intravascular coagulation29.9ELANE
50cholangitis29.9GPT

Graphical network of the top 20 diseases related to Kawasaki Disease:



Diseases related to kawasaki disease

Clinical Features for Kawasaki Disease

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

611775

Symptoms:

48 (show all 40)
  • heart/cardiac failure
  • angor pectoris/myocardial infarction
  • cardiac rhythm disorder/arrhythmia
  • lymphadenopathy/polyadenopathies
  • aseptic leukocyturia
  • cranial nerves palsy
  • facial pain/cephalalgia/migraine
  • meningitis/meningeal syndrome
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • articular/joint pain/arthralgia
  • aortic root dilatation/dilation/aneurysm
  • myocardium anomalies/myocarditis
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • acute abdominal pain/colic
  • abnormal nails colour/leukonychia/melanonychia
  • cutaneous edema
  • enanthema/aphtosa/aphta/leukoplakia
  • dry/squaly skin/exfoliation
  • proteinuria
  • vascularitis/vasculitides/arteritis
  • pharyngitis
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • cutaneous rash
  • glossitis
  • oral mucosa disease/cheilitis
  • acute diarrhea
  • cardiac valvulopathy
  • hepatitis/icterus/cholestasis
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • dermal/subcutaneous infiltration/induration
  • ptosis
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • asthenia/fatigue/weakness
  • fever/chilling
  • hyperleukocytosis/leukocytosis
  • arthritis/synovitis/synovial proliferation
  • acute ischemic syndrome
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis

Drugs & Therapeutics for Kawasaki Disease

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Kawasaki Disease

Drug clinical trials:

Search ClinicalTrials for Kawasaki Disease

Search NIH Clinical Center for Kawasaki Disease

Search CenterWatch for Kawasaki Disease

Genetic Tests for Kawasaki Disease

About this section

Anatomical Context for Kawasaki Disease

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Kawasaki Disease:

32
Lymph node, Tongue, Eye, Heart, Skin, Endothelial, Testes, Lung, Brain, Monocytes, T cells, Bone, Whole blood, Kidney, Myeloid, Liver, Tonsil, B cells

Animal Models for Kawasaki Disease or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Kawasaki Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538711.4ELANE, TIMP1, CCL2, MBL2, CRP, ITPKC
2MP:000537611.3CIITA, CRP, MBL2, CCL2, TIMP1, MYD88
3MP:000539711.1TIMP1, CCL2, MBL2, ITPKC, CIITA, MYD88
4MP:000200610.8ELANE, MMP9, MYD88, CCL2, TIMP1
5MP:000538510.7TIMP1, CCL2, NPPB, CRP, MYD88, MMP9

Publications for Kawasaki Disease

About this section
Sources:
50PubMed
See all sources

Articles related to Kawasaki Disease:

(show top 50)    (show all 888)
idTitleAuthorsYear
1
Atorvastatin safety in kawasaki disease patients with coronary artery aneurysms. (23864222)
2014
2
Giant aneurysm with thrombosis refractory to medical therapy due to Kawasaki disease. (24064100)
2013
3
Clinical spectrum of incomplete Kawasaki disease in Thailand. (23930731)
2013
4
Kawasaki Disease: A Clinician's Update. (24282419)
2013
5
Echo-Doppler assessment of arterial stiffness in pediatric patients with Kawasaki disease. (23800509)
2013
6
Efficacy of intravenous immunoglobulin combined with prednisolone following resistance to initial intravenous immunoglobulin treatment of acute Kawasaki disease. (23485027)
2013
7
The role of TGF-I^ and myofibroblasts in the arteritis of Kawasaki disease. (22955109)
2013
8
Elevated Serum Level of MicroRNA (miRNA)-200c and miRNA-371-5p in Children with Kawasaki Disease. (24259014)
2013
9
Procalcitonin levels in patients with complete and incomplete Kawasaki disease. (24223462)
2013
10
Atypical presentation of Kawasaki disease in young infants mimicking a retropharyngeal abscess. (22134843)
2012
11
Deterioration of cutaneous microcirculatory status of Kawasaki disease. (22311621)
2012
12
Elevated Serum Levels of IL-21 in Kawasaki Disease. (23115732)
2012
13
Cholestasis as the initial feature of Kawasaki disease. (22426301)
2012
14
Abstracts of the 10th International Kawasaki Disease Symposium. February 7-10, 2012. Kyoto, Japan. (22300385)
2012
15
Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis. (22446961)
2012
16
Percutaneous coronary intervention for acute myocardial infarction in a pediatric patient with coronary aneurysm and stenosis due to Kawasaki disease. (22311571)
2012
17
Kawasaki disease in Jordan: demographics, presentation, and outcome. (22067065)
2012
18
Takayasu's arteritis mimicking Kawasaki disease in 7-month-old infant, successfully treated with glucocorticosteroids and intravenous immunoglobulins. (20473497)
2012
19
Major histocompatibility complex class I chain-related gene polymorphisms: associated with susceptibility to Kawasaki disease and coronary artery aneurysms. (21815799)
2011
20
Ventricular repolarization lability in children with Kawasaki disease. (21344290)
2011
21
Kawasaki disease coincident with influenza A H1N1/09 infection. (21342333)
2011
22
Case images: progression of coronary artery aneurysms in incomplete Kawasaki disease. (21358238)
2011
23
Intravenous immune globulin plus corticosteroids in refractory Kawasaki disease. (21342358)
2011
24
Log-transformed plasma level of brain natriuretic peptide during the acute phase of Kawasaki disease is quantitatively associated with myocardial dysfunction. (22087201)
2011
25
CT analysis of retropharyngeal abnormality in Kawasaki disease. (22043152)
2011
26
A meta-analysis of the biomarkers associated with coronary artery lesions secondary to Kawasaki disease in Chinese children. (22038366)
2011
27
Arthritis associated with Kawasaki disease: MRI findings and serum matrix metalloproteinase-3 profiles. (22181570)
2011
28
Prediction of the risk of coronary arterial lesions in Kawasaki disease by brain natriuretic peptide. (21487793)
2011
29
Common variants in CASP3 confer susceptibility to Kawasaki disease. (20423928)
2010
30
Involvement of tryptophan hydroxylase 2 (TPH2) gene polymorphisms in susceptibility to coronary artery lesions in Korean children with Kawasaki disease. (19763617)
2010
31
Long-term results of saphenous vein graft for coronary stenosis caused by Kawasaki disease. (19047778)
2009
32
HLA-E gene polymorphism associated with susceptibility to Kawasaki disease and formation of coronary artery aneurysms. (19180512)
2009
33
Lack of association between E148Q MEFV variant and Kawasaki disease. (19026701)
2009
34
Hemophagocytic lymphohistiocytosis and Kawasaki disease: combined manifestation and differential diagnosis. (19434728)
2009
35
Clinical utility of ulinastatin, urinary protease inhibitor in acute Kawasaki disease]. (18265458)
2008
36
Parotitis and kawasaki disease in a child with Noonan syndrome. (18162955)
2008
37
Levels of intra- and extracellular heat shock protein 60 in Kawasaki disease patients treated with intravenous immunoglobulin. (17602873)
2007
38
Coronary aneurysm in Kawasaki disease. (17352360)
2007
39
The role of activation of toll-like receptors in immunological pathogenesis of Kawasaki disease]. (16780707)
2006
40
Family-based association analysis implicates IL-4 in susceptibility to Kawasaki disease. (15889128)
2005
41
Clinical value of serum matrix metalloproteinase-9 and tissue inhibitor of metalloproteinase-1 for the prediction and early diagnosis of coronary artery lesion in patients with Kawasaki disease]. (16191301)
2005
42
Induction of MCP1, CCR2, and iNOS expression in THP-1 macrophages by serum of children late after Kawasaki disease. (16306213)
2005
43
Changes in endothelium-derived vascular regulatory factors during dobutamine-stress-induced silent myocardial ischemia in patients with Kawasaki disease. (10462014)
1999
44
Morphologic and functional assessment of coronary aneurysm after Kawasaki disease by repeated dipyridamole-loading coronary angiography. (9708673)
1998
45
Kawasaki disease and the T-cell antigen receptor. (9544237)
1998
46
Evidence for RANTES, monocyte chemotactic protein-1, and macrophage inflammatory protein-1 beta expression in Kawasaki disease. (9195529)
1997
47
Characterization of CD4+ T helper cells in patients with Kawasaki disease (KD): preferential production of tumour necrosis factor-alpha (TNF-alpha) by V beta 2- or V beta 8- CD4+ T helper cells. (7851022)
1995
48
Serum levels of p60 soluble tumor necrosis factor receptor during acute Kawasaki disease. (8176558)
1994
49
Increased levels of circulating intercellular adhesion molecule 1 in Kawasaki disease. (1350908)
1992
50
Epididymo-orchitis in Kawasaki disease. (518116)
1979

Genetic Variations for Kawasaki Disease

About this section

Expression for genes affiliated with Kawasaki Disease

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Kawasaki Disease

Search GEO for disease gene expression data for Kawasaki Disease.

Pathways for genes affiliated with Kawasaki Disease

About this section
Sources:
12EMD Millipore, 37NCBI BioSystems Database, 29KEGG, 51QIAGEN, 53Reactome
See all sources

Compounds for genes affiliated with Kawasaki Disease

About this section
Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience, 49PharmGKB, 2BitterDB
See all sources

Compounds related to Kawasaki Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 173)
idCompoundScoreTop Affiliating Genes
1lactate4411.7CRP, MMP9, HSPD1, TIMP1, NPPB, SELL
2creatinine4411.6HSPD1, GPT, SELL, SELE, MBL2, ADM
3vegf4411.6TIMP1, CRP, MMP9, MMP3, SELE, NPPB
4lipid4411.5HSPD1, CRP, NPPB, CIITA, ADM, GPT
5cholesterol44 28 11 2414.5CRP, ADM, CCL2, GPT, SELE, MBL2
6alanine4411.5ADM, MMP3, HSPD1, TIMP1, CIITA, CRP
7sb 20358044 5912.5FCER2, MMP3, CRP, NPPB, SELL, SELE
8paraffin4411.5MBL2, MMP9, HSPD1, TIMP1, CCL2, ADM
9atorvastatin44 49 28 11 2415.4SELE, MMP9, CRP, SELL, CCL2, TIMP1
10cysteine4411.4ELANE, ADM, FCER2, HSPD1, TIMP1, MBL2
11simvastatin44 49 59 28 11 2416.4CRP, CCL2, MMP3, MMP9, GPT, SELL
12n acetylcysteine4411.4HSPD1, TIMP1, CCL2, CRP, MMP3, GPT
13fibrinogen4411.4GPT, MBL2, MMP9, CCL2, HSPD1, SELE
14histamine44 28 2413.4SELE, TIMP1, CCL2, NPPB, MMP3, FCER2
15genistein44 28 59 2 11 2416.3CCL2, TIMP1, MMP9, NPPB, MMP3, FCER2
16p0024411.3NPPB, TIMP1, GPT, ADM, MMP9, CRP
17glutamine4411.3MMP3, FCER2, GPT, TIMP1, ELANE, CCL2
18prostacyclin4411.3ELANE, CCL2, NPPB, CRP, ADM, TIMP1
19endotoxin4411.3ADM, HSPD1, SELE, SELL, MYD88, CIITA
20dexamethasone44 49 28 1114.3SELL, MMP9, CIITA, NPPB, TIMP1, FCER2
21serine4411.3CCL2, CIITA, FCER2, MMP3, MMP9, TIMP1
22oxygen44 2412.3MYD88, CCL2, CIITA, SELL, ADM, ELANE
23pioglitazone44 49 28 1114.2GPT, NPPB, CRP, CCL2, TIMP1, MMP9
24pravastatin44 49 28 11 2415.2CCL2, NPPB, CRP, MMP3, GPT, SELE
25cyclosporin a44 28 5913.2ADM, CIITA, GPT, ELANE, NPPB
268-isoprostane4411.2NPPB, CRP, MMP9, CCL2, SELE
27superoxide44 2412.2MBL2, ELANE, SELL, FCER2, HSPD1, CCL2
28nitric oxide44 11 2413.1SELE, MBL2, FCER2, CIITA, ADM, NPPB
29prednisolone44 28 1113.1SELL, MMP3, MBL2, NPPB, CRP
30batimastat44 59 1113.1MMP9, FCER2, TIMP1, ELANE, MMP3
31cytochalasin d44 5912.1TIMP1, SELE, SELL, MMP9, MMP3, CCL2
32vitamin d4411.1ELANE, TIMP1, CCL2, NPPB, MBL2, MMP3
33rantes4411.1SELL, MBL2, CIITA
34rosiglitazone44 49 28 11 2415.1TIMP1, GPT, NPPB
35cycloheximide4411.0SELL, HSPD1
36fenofibrate44 49 1113.0CCL2, MMP9, GPT, CRP, SELE
37herbimycin a44 5912.0MMP9, TIMP1, CCL2, FCER2, SELL, SELE
38norepinephrine44 11 2413.0ELANE, ADM
39aspartate4411.0GPT, CCL2, SELE, HSPD1, MBL2
40(4-aminophenyl)mercuric acetate4411.0ELANE, MMP9, MMP3, TIMP1
41pge24411.0MMP9
42glucose4411.0S100A12, NPPB, ADM
43gabexate mesilate4410.9MMP9, ELANE
44fluvastatin44 49 28 1113.9GPT, MMP9, CRP, SELE, CCL2
45isoproterenol44 1111.8CCL2, NPPB, ELANE, SELL, ADM, SELE
46cyclophosphamide44 49 1112.8NPPB, MBL2, CRP
47egcg4410.8ELANE
48doxycycline44 1111.8ELANE, TIMP1, MMP9, HSPD1, MMP3
49neopterin4410.7FCER2, MBL2, CRP, GPT, ELANE
50valsartan44 59 28 1113.4NPPB, CCL2, TIMP1, CRP

GO Terms for genes affiliated with Kawasaki Disease

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Kawasaki Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00557611.2CCL2, S100A12, MBL2, NPPB, CRP, MMP3
2extracellular spaceGO:00561510.8ADM, HSPD1, CCL2, MBL2, NPPB, CRP

Biological processes related to Kawasaki Disease according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix disassemblyGO:02261710.9ELANE, MMP9, MMP3, TIMP1
2inflammatory responseGO:00695410.9SELE, MYD88, CRP, S100A12, CCL2
3agingGO:00756810.9TIMP1, CCL2, CRP, ADM
4defense response to Gram-positive bacteriumGO:05083010.7MBL2, CRP, MYD88
5extracellular matrix organizationGO:03019810.7ELANE, MMP9, MMP3, TIMP1
6opsonizationGO:00822810.6CRP, MBL2
7collagen catabolic processGO:03057410.6ELANE, MMP9, MMP3
8positive regulation of nitric-oxide synthase biosynthetic processGO:05177010.3CCL2, FCER2

Molecular functions related to Kawasaki Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:00510210.7ADM, NPPB, MBL2, CCL2

Products for genes affiliated with Kawasaki Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Kawasaki Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet