MCID: HYP061
MIFTS: 59

Hypertrophic Cardiomyopathy malady

Cardiovascular category

Summaries for Hypertrophic Cardiomyopathy

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Hypertrophic cardiomyopathy (HCM) is a primary disease of the myocardium (the muscle of the heart) in... more...

MalaCards: Hypertrophic Cardiomyopathy, also known as hypertrophic obstructive cardiomyopathy, is related to familial hypertrophic cardiomyopathy and noonan syndrome. An important gene associated with Hypertrophic Cardiomyopathy is MYH7 (myosin, heavy chain 7, cardiac muscle, beta), and among its related pathways are Hypertrophic cardiomyopathy (HCM) and Striated Muscle Contraction. The compounds calcium and creatinine have been mentioned in the context of this disorder. Affiliated tissues include whole blood, brain and heart, and related mouse phenotypes are muscle and mortality/aging.

Description from OMIM:47 192600

Aliases & Classifications for Hypertrophic Cardiomyopathy

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 45Novoseek, 57SNOMED-CT, 35MeSH, 40NCIt, 47OMIM, 27ICD9CM, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular


Aliases & Descriptions:

hypertrophic cardiomyopathy 8 10 61
hypertrophic obstructive cardiomyopathy 8
cardiomyopathy hypertrophic obstructive 45
primary hypertrophic cardiomyopathy 8
cardiomyopathy, hypertrophic 8
hyper. obst. cardiomyopathy 8
hypertrophic myocardiopathy 8


External Ids:

Disease Ontology8 DOID:11984
MeSH35 D002312
NCIt40 C34449
OMIM47 192600
ICD9CM27 425.1
ICD1025 I42.1

Related Diseases for Hypertrophic Cardiomyopathy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the familial hypertrophic cardiomyopathy family:

hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy with wolff-parkinson-white syndrome, prkag2-related
cardiomyopathy, familial hypertrophic, 20 cardiomyopathy, familial hypertrophic, 2
cardiomyopathy, familial hypertrophic, 9 cardiomyopathy, familial hypertrophic, 13
cardiomyopathy, familial hypertrophic, 8 cardiomyopathy, familial hypertrophic, 16
cardiomyopathy, familial hypertrophic, 18 cardiomyopathy, familial hypertrophic, 21
cardiomyopathy, familial hypertrophic 6 cardiomyopathy, familial hypertrophic, 15
cardiomyopathy, familial hypertrophic, 12 cardiomyopathy, familial hypertrophic, 4
cardiomyopathy, familial hypertrophic, 10 cardiomyopathy, familial hypertrophic, 14
cardiomyopathy, familial hypertrophic, 1 cardiomyopathy, familial hypertrophic, 11
cardiomyopathy, familial hypertrophic, 3 cardiomyopathy, familial hypertrophic, 19
cardiomyopathy, familial hypertrophic, 7 cardiomyopathy, familial hypertrophic 17
hypertrophic cardiomyopathy due to intensive athletic training

Diseases related to Hypertrophic Cardiomyopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 293)
idRelated DiseaseScoreTop Affiliating Genes
1familial hypertrophic cardiomyopathy31.9CALR3, CSRP3, TNNT2, TPM1, ACTC1, TNNI3
2noonan syndrome31.0TCAP, SLC25A4, PLN, TTN, MYH7, MYBPC3
3nemaline myopathy30.6ACTC1
4acute myocardial infarction30.3MYH7, TNNT2, TNNI3, MYL3
5myopathy congenital30.2MYH6, TTN, MYH7
6diastolic heart failure30.2TTN
7left ventricular outflow tract obstruction10.8
8mitochondrial cardiomyopathy10.7
9n syndrome10.7
10hypertensive heart disease10.6
11fabry disease10.5
12stress cardiomyopathy10.5
13leopard syndrome10.5
14left ventricular noncompaction10.4
15non-familial hypertrophic cardiomyopathy10.4
16wolff-parkinson-white syndrome10.4
17danon disease10.3
18costello syndrome10.3
19cardiomyopathy, familial hypertrophic, 110.3
20angiodysplasia10.3
21friedreich ataxia10.3
22ventricular septal defect10.3
23syncope10.3
24deafness, autosomal dominant 2210.3
25maternally-inherited mitochondrial hypertrophic cardiomyopathy10.3
26fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency10.3
27cardiac tamponade10.2
28mitral valve prolapse10.2
29cardiac sarcoidosis10.2
30myocardial stunning10.2
31acute myocarditis10.2
32hypertrophic cardiomyopathy, midventricular, digenic10.2
33mucopolysaccharidosis ih10.2
34cardiomyopathy, familial hypertrophic, 1410.2
35hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial dna mutation10.2
36cardiogenic shock10.2
37glycogen storage disease v10.2
38mixed connective tissue disease10.1
39systolic heart failure10.1
40pheochromocytoma10.1
41atrioventricular block10.1
42marfan syndrome10.1
43klinefelter's syndrome10.1
44hyperinsulinism10.1
45adult syndrome10.1
46septal myocardial infarction10.1
47apical myocardial infarction10.1
48amyloidosis10.1
49aortic valve stenosis10.1
50cardiofaciocutaneous syndrome10.1

Graphical network of the top 20 diseases related to Hypertrophic Cardiomyopathy:



Diseases related to hypertrophic cardiomyopathy

Clinical Features for Hypertrophic Cardiomyopathy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

192600

Drugs & Therapeutics for Hypertrophic Cardiomyopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hypertrophic Cardiomyopathy

Drug clinical trials:

Search ClinicalTrials for Hypertrophic Cardiomyopathy

Search NIH Clinical Center for Hypertrophic Cardiomyopathy

Search CenterWatch for Hypertrophic Cardiomyopathy

Genetic Tests for Hypertrophic Cardiomyopathy

Anatomical Context for Hypertrophic Cardiomyopathy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hypertrophic Cardiomyopathy:

33
Whole blood, Brain, Heart, Smooth muscle, Skeletal muscle, Kidney, Liver, Skin, Monocytes, T cells, B cells, Endothelial, Fetal brain, Cardiac myocytes, Fetal liver

Animal Models for Hypertrophic Cardiomyopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hypertrophic Cardiomyopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536911.4TNNT2, CSRP3, ACTC1, TCAP, SLC25A4, PLN
2MP:001076811.4ACTC1, PLN, TTN, MYO6, MYH6, NDUFV2
3MP:000538511.4MYBPC3, MYL2, TNNT2, CSRP3, TNNI3, MYOZ2
4MP:000537611.1MYH6, MYOZ2, MYL2, TNNT2, CSRP3, MYO6

Publications for Hypertrophic Cardiomyopathy

Sources:
51PubMed
See all sources

Articles related to Hypertrophic Cardiomyopathy:

(show top 50)    (show all 1422)
idTitleAuthorsYear
1
Juvenile neuronal ceroid-lipofuscinosis with hypertrophic cardiomyopathy and left ventricular noncompaction: a case report. (24429647)
2014
2
Myocardial fibrosis detected by cardiac CT predicts ventricular fibrillation/ventricular tachycardia events in patients with hypertrophic cardiomyopathy. (23849490)
2013
3
A high-normal thyrotropin level is associated with the severity of left ventricular diastolic dysfunction in patients with hypertrophic cardiomyopathy. (23575707)
2013
4
Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy. (23674513)
2013
5
Outcome of septal myectomy for obstructive hypertrophic cardiomyopathy in children and young adults. (23040828)
2013
6
The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain). (23870641)
2013
7
A paradigm shift in our understanding of the development of the hypertrophic cardiomyopathy phenotype?: not so fast! (23283855)
2013
8
The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy. (24367055)
2013
9
Two different cardiomyopathies in a single patient : hypertrophic cardiomyopathy and left ventricular noncompaction. (23263242)
2013
10
Outcome and complications after implantable cardioverter defibrillator therapy in hypertrophic cardiomyopathy: systematic review and meta-analysis. (22821634)
2012
11
Melting heart: dilated phase of hypertrophic cardiomyopathy. (22877915)
2012
12
Midventricular Obstructive Hypertrophic Cardiomyopathy during Pregnancy Complicated by Pulmonary Embolism: A Case Report. (23024656)
2012
13
Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia. (22374380)
2012
14
Medical, surgical and interventional management of hypertrophic cardiomyopathy with obstruction. (22956194)
2012
15
Evaluation of subtle myocardial noncompaction by contrast echocardiography in patients with hypertrophic cardiomyopathy and its relationship with regional ventricular systolic dysfunction. (23011618)
2012
16
The development of familial hypertrophic cardiomyopathy: from mutation to bedside. (21158848)
2011
17
Facilitated cross-bridge interactions with thin filaments by familial hypertrophic cardiomyopathy mutations in I+-tropomyosin. (22187526)
2011
18
The Gln1233ter mutation of the myosin binding protein C gene: causative mutation or innocent polymorphism in patients with hypertrophic cardiomyopathy? (21985754)
2011
19
Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure. (21163866)
2011
20
Correlation between serum cardiac markers and myocardial infarct size quantified by myocardial perfusion imaging in patients with hypertrophic cardiomyopathy after alcohol septal ablation. (20102929)
2010
21
Neonatal gene transfer of Serca2a delays onset of hypertrophic remodeling and improves function in familial hypertrophic cardiomyopathy. (20854827)
2010
22
Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy. (20801532)
2010
23
Hypertrophic cardiomyopathy presenting as restrictive cardiomyopathy: a case complicated by biventricular apical aneurysms and papillary fibroelastoma. (18508285)
2009
24
Relationship between circulating levels of monocyte chemoattractant protein-1 and systolic dysfunction in patients with hypertrophic cardiomyopathy. (19211266)
2009
25
Cardiac troponin I degradation in serum of patients with hypertrophic obstructive cardiomyopathy undergoing percutaneous septal ablation. (19571537)
2009
26
ACE I/D polymorphism in Indian patients with hypertrophic cardiomyopathy and dilated cardiomyopathy. (18165925)
2008
27
Percutaneous transluminal septal myocardial ablation in a child with hypertrophic obstructive cardiomyopathy and Noonan syndrome. (18837814)
2008
28
Left ventricular outflow tract obstruction in hypertrophic cardiomyopathy: past, present and future. (18653577)
2008
29
Diltiazem treatment prevents diastolic heart failure in mice with familial hypertrophic cardiomyopathy. (16214409)
2006
30
Nager's acrofacial dysostosis with hypertrophic cardiomyopathy. (17013486)
2006
31
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. (16352453)
2006
32
Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. (15856146)
2005
33
Effects of two familial hypertrophic cardiomyopathy mutations in alpha-tropomyosin, Asp175Asn and Glu180Gly, on the thermal unfolding of actin-bound tropomyosin. (15454401)
2004
34
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. (15358028)
2004
35
A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients. (12628722)
2003
36
Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy. (11857753)
2002
37
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. (12081993)
2002
38
Comparison of two murine models of familial hypertrophic cardiomyopathy. (11230104)
2001
39
R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level. (11227787)
2000
40
Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene. (10563488)
1999
41
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. (10521296)
1999
42
Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy. (10424815)
1999
43
Genetic causes of hypertrophic cardiomyopathy]. (9594535)
1998
44
Overexpression of transforming growth factor-beta1 and insulin-like growth factor-I in patients with idiopathic hypertrophic cardiomyopathy. (9264495)
1997
45
Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure. (8655135)
1996
46
Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy. (7496082)
1995
47
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. (8205619)
1994
48
An additional marker for familial hypertrophic cardiomyopathy? (8261235)
1993
49
Ventricular expression of brain natriuretic peptide in hypertrophic cardiomyopathy. (8339400)
1993
50
Structural analysis of cardiac beta myosin heavy chain gene in familial hypertrophic cardiomyopathy]. (8320828)
1993

Genetic Variations for Hypertrophic Cardiomyopathy

Expression for genes affiliated with Hypertrophic Cardiomyopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hypertrophic Cardiomyopathy

Search GEO for disease gene expression data for Hypertrophic Cardiomyopathy.

Pathways for genes affiliated with Hypertrophic Cardiomyopathy

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 4Cell Signaling Technology, 52QIAGEN
See all sources

Pathways related to Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.5MYH7, MYBPC3, TTN, MYL2, PLN, ACTC1
2
Hide members
11.4MYBPC2, MYL3, MYH6, MYBPC3, TTN, TCAP
311.2TNNT2, TNNI3, TNNC1, MYL2, MYL3, MYH7
410.9MYH6, ACTC1, MYL2, TNNI3, TNNT2
5
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
10.9MYH6, ACTC1, MYL2, MYL3, MYH7
610.9TPM1, ACTC1, TNNI3, TNNT2, MYO6
7
Hide members
10.9MYL2, MYO6, MYH6, MYL3, MYH7
8
Hide members
10.9MYO6, MYH6, MYH7, MYL3, MYL2
9
Hide members
10.9MYL3, MYL2, MYH7, MYO6, MYH6
10
Hide members
10.9MYH7, MYL2, MYH6, MYO6, MYL3
11
Hide members
10.9MYL3, MYH6, MYO6, MYH7, MYL2
12
Hide members
10.9MYL2, MYH7, MYO6, MYH6, MYL3
13
Immune response CCR3 signaling in eosinophils
Hide members
10.8MYL3, MYL2, MYH7, MYH6
1410.8MYH6, MYH7, MYL3, MYL2
15
Hide members
10.8TNNT2, TNNC1, PLN, TNNI3
1610.7MYL2, MYH7, MYH6
1710.6MYH7, MYL2

Compounds for genes affiliated with Hypertrophic Cardiomyopathy

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium45 50 11 2414.9CALR3, TPM1, SLC25A4, PLN, TTN, MYH7
2creatinine4511.3ACTC1, TNNT2, TNNI3, MYOZ2, MYL3, MYH7
3(s)-(-)-blebbistatin6011.0MYL3, MYH6, MYH7, MYL2
4atp45 2912.0TTN, MYH7, MYO6, MYH6, SLC25A4, MYBPC3
5(+-)-blebbistatin6011.0MYL2, MYL3, MYH6, MYH7
6bts6010.9MYH7, MYH6, MYL3, MYL2
7(r)-(+)-blebbistatin6010.9MYH7, MYH6, MYL3, MYL2
8actomyosin4510.8TNNC1, MYH7, TTN, ACTC1
9n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide45 1111.5TNNI3, TNNC1
10ryanodine45 29 6012.4MYH6, TTN, MYH7

GO Terms for genes affiliated with Hypertrophic Cardiomyopathy

Sources:
16Gene Ontology
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Cellular components related to Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00582911.8TNNT2, TPM1, ACTC1, TCAP, TTN, MYBPC3
2sarcomereGO:03001711.6MYH7, MYOZ2, TNNT2, TNNI3, MYL2, MYL3
3Z discGO:03001811.2MYOZ2, MYH6, MYH7, TTN, TCAP, CSRP3
4I bandGO:03167411.0ACTC1, TTN, MYL3, TCAP
5troponin complexGO:00586110.9TNNT2, TNNC1, TNNI3
6myosin filamentGO:03298210.9MYH6, MYH7, MYBPC2
7muscle myosin complexGO:00585910.9MYH7, MYH6, MYL3
8myosin complexGO:01645910.8MYL2, MYH7, MYH6
9stress fiberGO:00172510.8MYH7, MYH6, TPM1
10striated muscle thin filamentGO:00586510.6TTN, TNNT2
11myofibrilGO:03001610.6MYH6, MYL2
12A bandGO:03167210.5MYL3, MYBPC3
13filamentous actinGO:03194110.3TPM1, MYO6

Biological processes related to Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:03004911.9ACTC1, TNNT2, TNNI3, TNNC1, MYL2, MYBPC2
2cardiac muscle contractionGO:06004811.7TNNI3, CSRP3, TPM1, ACTC1, TCAP, TTN
3ventricular cardiac muscle tissue morphogenesisGO:05501011.6TPM1, MYH7, MYBPC3, TNNT2, TNNC1, MYL2
4sarcomere organizationGO:04521411.3MYBPC3, TTN, TCAP, TPM1, MYH6, TNNT2
5cardiac myofibril assemblyGO:05500311.2TCAP, CSRP3, TTN, MYL2, ACTC1
6positive regulation of ATPase activityGO:03278111.2TPM1, MYBPC3, MYL3, TNNT2
7adult heart developmentGO:00751211.1TCAP, TTN, MYH7, MYH6
8regulation of the force of heart contractionGO:00202611.1MYL3, PLN, CSRP3, MYH6
9regulation of heart contractionGO:00801611.1TPM1, PLN, MYH6, TNNT2
10detection of muscle stretchGO:03599511.1CSRP3, TTN, TCAP
11cardiac muscle hypertrophyGO:00330011.0CSRP3, TCAP, TTN
12skeletal muscle thin filament assemblyGO:03024011.0TTN, TCAP, ACTC1
13cardiac muscle fiber developmentGO:04873911.0MYH6, TTN, TCAP
14negative regulation of ATPase activityGO:03278011.0PLN, TNNT2, TNNI3
15ATP catabolic processGO:00620011.0TNNT2, MYH7, MYH6, ACTC1
16regulation of striated muscle contractionGO:00694211.0MYBPC3, MYL2, MYL3
17heart contractionGO:06004711.0ACTC1, TNNI3, MYL2
18muscle contractionGO:00693611.0TTN, TPM1, MYH6, MYH7
19cardiac muscle tissue morphogenesisGO:05500811.0TTN, TCAP, ACTC1
20cardiac muscle tissue developmentGO:04873811.0NDUFV2, CSRP3, PLN
21regulation of muscle contractionGO:00693710.9TPM1, TNNC1, TNNT2
22regulation of heart rateGO:00202710.9MYBPC3, MYH6, MYH7
23sarcomerogenesisGO:04876910.7TTN, TCAP
24skeletal muscle myosin thick filament assemblyGO:03024110.7TCAP, TTN
25regulation of ATPase activityGO:04346210.6MYH6, TNNC1
26actin filament-based movementGO:03004810.6MYO6, ACTC1
27atrial cardiac muscle tissue morphogenesisGO:05500910.5MYH6, TNNT2
28striated muscle contractionGO:00694110.3MYH6, TTN

Molecular functions related to Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00830711.6MYL3, CSRP3, TCAP, MYBPC2, TPM1, TTN
2actin bindingGO:00377911.5MYO6, MYBPC3, MYOZ2, TPM1, MYH6, MYBPC2
3protein bindingGO:00551511.4TNNI3, TCAP, TNNC1, PLN, TTN, MYH7
4ATPase activityGO:01688711.1MYH6, MYH7, ACTC1, TNNT2
5calmodulin bindingGO:00551611.0TTN, MYO6, MYH6, MYH7
6telethonin bindingGO:03143311.0TTN, CSRP3, MYOZ2
7troponin C bindingGO:03017210.9TNNI3, TNNT2
8myosin heavy chain bindingGO:03203610.9MYL2, MYBPC3
9troponin T bindingGO:03101410.9TNNI3, TNNC1
10actin filament bindingGO:05101510.9MYO6, TTN, TNNC1
11troponin I bindingGO:03101310.9TNNC1, TNNT2
12actinin bindingGO:04280510.8TTN, CSRP3
13actin-dependent ATPase activityGO:03089810.8MYH6, MYH7
14calcium ion bindingGO:00550910.8MYL3, CALR3, TNNC1, MYL2, TTN
15titin bindingGO:03143210.8MYBPC3, TCAP
16actin monomer bindingGO:00378510.7MYL3, MYL2
17myosin bindingGO:01702210.6MYBPC3, ACTC1
18microfilament motor activityGO:00014610.3MYH6, MYH7

Products for genes affiliated with Hypertrophic Cardiomyopathy

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  • Proteins
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  • Antibodies

Sources for Hypertrophic Cardiomyopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet