MCID: HYP061
MIFTS: 65

Hypertrophic Cardiomyopathy malady

Genetic diseases, Cardiovascular diseases, Muscle diseases, Rare diseases categories
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Summaries for Hypertrophic Cardiomyopathy

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Disease Ontology:8 An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.

MalaCards based summary: Hypertrophic Cardiomyopathy, also known as cardiomyopathy, hypertrophic obstructive, is related to myocardial infarction and myocarditis. An important gene associated with Hypertrophic Cardiomyopathy is MYH7 (myosin, heavy chain 7, cardiac muscle, beta), and among its related pathways are Cardiomyocyte Differentiation through BMP Receptors and Tight junction. The compounds n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide and bts have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related mouse phenotypes are growth/size/body and normal.

Wikipedia:65 Hypertrophic cardiomyopathy (HCM) is a primary disease of the myocardium (the muscle of the heart) in... more...

Description from OMIM:46 192600

GeneReviews summary for hyper-card

Aliases & Classifications for Hypertrophic Cardiomyopathy

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Hypertrophic Cardiomyopathy, Aliases & Descriptions:

Name: Hypertrophic Cardiomyopathy 8 19 10 62
Cardiomyopathy, Hypertrophic Obstructive 62
Hypertrophic Obstructive Cardiomyopathy 8
 
Cardiomyopathy Hypertrophic Obstructive 44
Cardiomyopathy, Hypertrophic 8
Hyper. Obst. Cardiomyopathy 8


Classifications:



External Ids:

Disease Ontology8 DOID:11984
OMIM46 192600
NCIt39 C34449
ICD9CM27 425.1
MeSH34 D002312
ICD1025 I42.1

Related Diseases for Hypertrophic Cardiomyopathy

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Diseases in the Familial Hypertrophic Cardiomyopathy family:

hypertrophic cardiomyopathy Cav3-Related Hypertrophic Cardiomyopathy
Myh7-Related Familial Hypertrophic Cardiomyopathy Tnnt2-Related Familial Hypertrophic Cardiomyopathy
Tpm1-Related Familial Hypertrophic Cardiomyopathy Mybpc3-Related Familial Hypertrophic Cardiomyopathy
Tnni3-Related Familial Hypertrophic Cardiomyopathy Myl3-Related Familial Hypertrophic Cardiomyopathy
Myl2-Related Familial Hypertrophic Cardiomyopathy Ttn-Related Familial Hypertrophic Cardiomyopathy
Actc1-Related Familial Hypertrophic Cardiomyopathy Myh6-Related Familial Hypertrophic Cardiomyopathy
Tcap-Related Familial Hypertrophic Cardiomyopathy Csrp3-Related Familial Hypertrophic Cardiomyopathy
Tnnc1-Related Familial Hypertrophic Cardiomyopathy Actn2-Related Familial Hypertrophic Cardiomyopathy
Myoz2-Related Familial Hypertrophic Cardiomyopathy Nexn-Related Familial Hypertrophic Cardiomyopathy
Pln-Related Familial Hypertrophic Cardiomyopathy 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, 22 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 288)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction30.9TNNT2, TNNI3, MYL3
2myocarditis30.8TNNI3, TNNT2, MYH6
3congestive heart failure30.8TNNT2, TNNI3
4diastolic heart failure30.7TTN
5myopathy30.7TNNT2, TNNI3, TTN, TPM1, MYH7, MYH6
6acute myocardial infarction30.2MYH7, TNNI3, TNNT2, MYL3
7congenital heart disease30.2MYH6, MYH7
8noonan syndrome29.8SLC25A4, CSRP3, ACTC1, MYH6, MYL2, MYBPC3
9familial hypertrophic cardiomyopathy29.7MYH7, MYBPC3, TPM1, TTN, TNNI3, TNNC1
10dilated cardiomyopathy29.4TNNI3, TTN, TPM1, MYBPC3, MYH7, MYH6
11left ventricular outflow tract obstruction10.9
12hypertension10.8
13hypertensive heart disease10.6
14aneurysm10.6
15leopard syndrome10.5
16fabry disease10.5
17acquired von willebrand syndrome10.5
18left ventricular noncompaction10.5
19nemaline myopathy10.4
20glycogen storage disease10.4
21wolff-parkinson-white syndrome10.4
22costello syndrome10.4
23long qt syndrome10.4
24fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency10.4
25familial restrictive cardiomyopathy10.3MYH7, TNNI3
26angiodysplasia10.3
27friedreich ataxia10.3
28danon disease10.3
29syncope10.3
30deafness, autosomal dominant 2210.3
31endotheliitis10.3
32intermediate coronary syndrome10.3TNNI3, TNNT2
33distal arthrogryposis10.3TPM1
34obesity10.3
35pulmonary hypertension10.3
36tetralogy of fallot10.3
37cardiac sarcoidosis10.3
38myocardial stunning10.3
39amyloidosis10.3
40congenital disorder of glycosylation10.3
41endocarditis10.3
42ischemia10.3
43lactic acidosis10.3
44sarcoidosis10.3
45ventricular septal defect10.3
46combined oxidative phosphorylation deficiency 1010.3
47hypertrophic cardiomyopathy, midventricular, digenic10.3
48hypertrophic cardiomyopathy due to intensive athletic training10.3
49hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial dna mutation10.3
50cardiogenic shock10.3

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



Diseases related to hypertrophic cardiomyopathy

Symptoms for Hypertrophic Cardiomyopathy

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Clinical features from OMIM:

192600

Drugs & Therapeutics for Hypertrophic Cardiomyopathy

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Drug clinical trials:

Search ClinicalTrials for Hypertrophic Cardiomyopathy

Search NIH Clinical Center for Hypertrophic Cardiomyopathy

Genetic Tests for Hypertrophic Cardiomyopathy

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Anatomical Context for Hypertrophic Cardiomyopathy

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MalaCards organs/tissues related to Hypertrophic Cardiomyopathy:

32
Heart, Testes, Brain, Endothelial, Cardiac myocytes, Skeletal muscle, Liver, Smooth muscle, Skin, Monocytes

Animal Models for Hypertrophic Cardiomyopathy or affiliated genes

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MGI Mouse Phenotypes related to Hypertrophic Cardiomyopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.3TTN, TPM1, MYBPC3, MYL2, ACTC1, CSRP3
2MP:00028738.0TNNT2, TTN, TPM1, MYL2, ACTC1, SLC25A4
3MP:00053767.5TNNT2, TTN, MYBPC3, MYL2, MYH6, ACTC1
4MP:00053697.5SLC25A4, TNNT2, TNNI3, TTN, MYBPC3, MYL2
5MP:00053857.2TNNT2, TNNI3, TTN, TPM1, MYBPC3, MYL2
6MP:00107687.1TNNT2, TNNI3, TTN, TPM1, MYL2, MYH6

Publications for Hypertrophic Cardiomyopathy

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Articles related to Hypertrophic Cardiomyopathy:

(show top 50)    (show all 1369)
idTitleAuthorsYear
1
Abnormal T2-STIR Magnetic Resonance in Hypertrophic Cardiomyopathy: A Marker of Advanced Disease and Electrical Myocardial Instability. (25356653)
2014
2
A case of an infant with compound heterozygous mutations for hypertrophic cardiomyopathy producing a phenotype of left ventricular noncompaction. (25262865)
2014
3
Risk of death in long-term follow-up of patients with apical hypertrophic cardiomyopathy. (23540548)
2013
4
Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. (24113344)
2013
5
Re: Assessment of coronary microvascular dysfunction in hypertrophic cardiomyopathy: First-pass myocardial perfusion cardiovascular magnetic resonance imaging at 1.5A T. (24290778)
2013
6
Relation between left ventricular outflow tract obstruction and left ventricular shape in patients with hypertrophic cardiomyopathy: a cardiac magnetic resonance imaging study. (23906680)
2013
7
T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy. (23549607)
2013
8
Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy. (23494605)
2013
9
Fast diastolic swinging motion of the mitral valve as a clinical marker of familial hypertrophic cardiomyopathy in genetically affected young children without left ventricular hypertrophy: a new role for noninvasive imaging? (23557229)
2013
10
A unique case of a 7-year-old with noonan's syndrome, hypertrophic cardiomyopathy, biventricular outflow tract obstruction, and a right ventricular aneurysm. (23747783)
2013
11
Epicardial ablation of monomorphic ventricular tachycardia in a case of hypertrophic cardiomyopathy with apical aneurysm. (22764201)
2013
12
Pregnancy outcome in a case of non-obstructive hypertrophic cardiomyopathy. (23982559)
2013
13
Familial hypertrophic cardiomyopathy: is the Frank-Starling law kaput? (23704214)
2013
14
Angiotensinogen gene variations and LV outflow obstruction in hypertrophic cardiomyopathy. (23880944)
2013
15
Mid-term outcomes of alcohol septal ablation for obstructive hypertrophic cardiomyopathy in patients with sigmoid versus neutral ventricular septum. (23220977)
2012
16
Outcome and complications after implantable cardioverter defibrillator therapy in hypertrophic cardiomyopathy: systematic review and meta-analysis. (22821634)
2012
17
Recurrent unilateral pleural effusion in a hypertrophic cardiomyopathy patient secondary to atrial arrhythmias and the role of radiofrequency ablation. (22622140)
2012
18
Apical hypertrophic cardiomyopathy with apical aneurysm in an African-American male. (22499000)
2012
19
A myomesin mutation associated with hypertrophic cardiomyopathy deteriorates dimerisation properties. (21256114)
2011
20
Cardiac MRI in a patient with coincident left ventricular non-compaction and hypertrophic cardiomyopathy. (23074372)
2011
21
The role of alcohol septal ablation in the treatment of left ventricular outflow tract obstruction in hypertrophic cardiomyopathy. (22093511)
2011
22
Mutations in the beta-myosin heavy chain gene in southern Chinese families with hypertrophic cardiomyopathy. (20819418)
2010
23
Cardiac tamponade or normal respiratory variation? An illustrative case of septal ablation for obstructive hypertrophic cardiomyopathy. (20549684)
2010
24
Hypertrophic cardiomyopathy: from genetics to treatment. (20503496)
2010
25
Hypertrophic cardiomyopathy due to beta-myosin heavy chain mutation with extreme phenotypic variability within a family. (18374998)
2009
26
The effects of candesartan on left ventricular hypertrophy and function in nonobstructive hypertrophic cardiomyopathy: a pilot, randomized study. (19074594)
2009
27
A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. (19645038)
2009
28
Hypertrophic cardiomyopathy. A study of the troponin-T gene in 127 Spanish families. (20038417)
2009
29
ACE I/D polymorphism in Indian patients with hypertrophic cardiomyopathy and dilated cardiomyopathy. (18165925)
2008
30
Plasma biomarkers of endothelial dysfunction in patients with hypertrophic cardiomyopathy. (18195461)
2007
31
Rescue of tropomyosin-induced familial hypertrophic cardiomyopathy mice by transgenesis. (17416600)
2007
32
Clinical significance of N-terminal-probrain natriuretic peptide in hypertrophic cardiomyopathy. (17879024)
2007
33
Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations. (16267621)
2006
34
Diltiazem treatment prevents diastolic heart failure in mice with familial hypertrophic cardiomyopathy. (16214409)
2006
35
Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene. (16566405)
2005
36
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. (12860912)
2003
37
Divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins. (12006676)
2002
38
Increased plasma brain natriuretic peptide level as a guide for silent myocardial ischemia in patients with non-obstructive hypertrophic cardiomyopathy. (12020494)
2002
39
Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility. (11853553)
2002
40
Coexistence of hypertrophic cardiomyopathy and fibromuscular dysplasia of the superior mesenteric artery. (11336027)
2001
41
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. (10966831)
2000
42
Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. (10764406)
2000
43
Phenotypic variation of familial hypertrophic cardiomyopathy caused by the Phe(110)-->Ile mutation in cardiac troponin T. (10965086)
2000
44
Familial hypertrophic cardiomyopathy: a paradigm of the cardiac hypertrophic response to injury. (9800880)
1998
45
Genetic heterogeneity for familial hypertrophic cardiomyopathy in Chinese: analysis of six Chinese kindreds. (10374350)
1998
46
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. (9241277)
1997
47
Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy. (8523464)
1995
48
The electrocardiogram is a more sensitive indicator than echocardiography of hypertrophic cardiomyopathy in families with a mutation in the MYH7 gene. (7848420)
1994
49
Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria. (7691603)
1993
50
HLA linkage vs association in hypertrophic cardiomyopathy. Evidence for the absence of an association in a heterogeneous Caucasian population. (7200000)
1982

Variations for Hypertrophic Cardiomyopathy

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Expression for genes affiliated with Hypertrophic Cardiomyopathy

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Expression patterns in normal tissues for genes affiliated with Hypertrophic Cardiomyopathy

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Pathways for genes affiliated with Hypertrophic Cardiomyopathy

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Pathways related to Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MYL2, MYH7
29.6MYH7, MYL2, MYH6
3
Show member pathways
9.5TNNI3, TNNC1, TNNT2
49.4TNNT2, TNNI3, TPM1, ACTC1
5
Show member pathways
9.3MYH7, MYL3, MYL2, MYH6
6
Show member pathways
9.3MYH7, MYL3, MYL2, MYH6
7
Show member pathways
9.3MYH7, MYL3, MYL2, MYH6
8
Show member pathways
9.3MYH6, MYL2, MYL3, MYH7
9
Show member pathways
9.3MYH6, MYL2, MYL3, MYH7
10
Show member pathways
9.3MYH6, MYL2, MYL3, MYH7
11
Show member pathways
9.3MYH6, MYL2, MYL3, MYH7
128.9TNNT2, TNNI3, MYL2, MYH6, ACTC1
13
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
8.9MYH7, MYL3, MYL2, MYH6, ACTC1
147.6TNNI3, TPM1, MYH7, MYL3, MYL2, MYH6
157.6TNNT2, TNNC1, TNNI3, TPM1, MYH7, MYL3
16
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
7.0TTN, TPM1, MYBPC3, MYH7, MYL3, MYL2
17
Show member pathways
6.8TNNT2, TNNC1, TNNI3, TTN, TPM1, MYBPC3

Compounds for genes affiliated with Hypertrophic Cardiomyopathy

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Compounds related to Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide44 1110.6TNNI3, TNNC1
2bts619.5MYL2, MYL3, MYH7, MYH6
3(r)-(+)-blebbistatin619.5MYH6, MYL2, MYL3, MYH7
4ryanodine44 28 6111.5MYH6, MYH7, TTN
5polyacrylamide449.5MYH6, MYH7, TTN
6(s)-(-)-blebbistatin619.5MYH7, MYH6, MYL2, MYL3
7(+-)-blebbistatin619.4MYH6, MYL2, MYL3, MYH7
8actomyosin449.0TNNC1, TTN, MYH7, ACTC1
9atp44 289.3TTN, MYBPC3, MYH7, MYH6, SLC25A4
10creatinine448.2TNNT2, TNNI3, TTN, MYH7, MYL3, ACTC1
11calcium44 50 24 119.3SLC25A4, TNNT2, TNNC1, TNNI3, TTN, TPM1

GO Terms for genes affiliated with Hypertrophic Cardiomyopathy

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Cellular components related to Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1A bandGO:0316729.8MYBPC3, MYL3, MYL2
2myofibrilGO:0300169.8MYH6, MYL2
3muscle myosin complexGO:0058599.7MYH7, MYL3, MYH6
4troponin complexGO:0058619.7TNNI3, TNNC1, TNNT2
5myosin filamentGO:0329829.6MYH7, MYH6, MYBPC2
6myosin complexGO:0164599.6MYH6, MYL2, MYH7
7stress fiberGO:0017259.5TPM1, MYH7, MYH6
8striated muscle thin filamentGO:0058659.5TTN, TNNT2
9I bandGO:0316749.5TTN, MYL3, ACTC1
10Z discGO:0300189.3CSRP3, MYH6, MYH7, TTN
11sarcomereGO:0300178.2ACTC1, TNNT2, TNNI3, TPM1, MYBPC3, MYH7
12cytosolGO:0058297.0TNNT2, TNNC1, TNNI3, TTN, TPM1, MYBPC3

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of ATPase activityGO:03278010.1TNNT2, TNNI3
2detection of muscle stretchGO:03599510.0CSRP3, TTN
3atrial cardiac muscle tissue morphogenesisGO:05500910.0TNNT2, MYH6
4regulation of striated muscle contractionGO:00694210.0MYBPC3, MYL3, MYL2
5cardiac muscle hypertrophyGO:0033009.9TTN, CSRP3
6regulation of heart rateGO:0020279.9MYBPC3, MYH7, MYH6
7skeletal muscle thin filament assemblyGO:0302409.9TTN, ACTC1
8heart contractionGO:0600479.9ACTC1, MYL2, TNNI3
9skeletal muscle tissue developmentGO:0075199.9CSRP3, MYL3
10regulation of heart contractionGO:0080169.8MYH6, TPM1, TNNT2
11regulation of ATPase activityGO:0434629.8TNNC1, MYH6
12adult heart developmentGO:0075129.8MYH6, MYH7, TTN
13positive regulation of ATPase activityGO:0327819.8MYL3, MYBPC3, TPM1, TNNT2
14striated muscle contractionGO:0069419.8TTN, MYH7, MYH6
15cardiac muscle fiber developmentGO:0487399.8MYH6, TTN
16regulation of muscle contractionGO:0069379.8TNNT2, TNNC1, TPM1
17cardiac muscle tissue morphogenesisGO:0550089.7ACTC1, TTN
18regulation of the force of heart contractionGO:0020269.6MYH7, MYL3, MYH6, CSRP3
19ATP catabolic processGO:0062009.5TNNT2, MYH7, MYH6, ACTC1
20muscle contractionGO:0069369.5MYH6, MYH7, TPM1, TTN
21cardiac myofibril assemblyGO:0550039.5CSRP3, ACTC1, MYL2, TTN
22sarcomere organizationGO:0452149.3TNNT2, TTN, TPM1, MYBPC3, MYH6
23cardiac muscle tissue developmentGO:0487389.3CSRP3, NDUFV2
24in utero embryonic developmentGO:0017019.1MYH6, TPM1, TTN
25ventricular cardiac muscle tissue morphogenesisGO:0550108.1MYBPC3, TPM1, TNNI3, TNNC1, TNNT2, MYH7
26cardiac muscle contractionGO:0600487.9TNNC1, CSRP3, ACTC1, MYL2, MYL3, MYBPC3
27muscle filament slidingGO:0300496.9ACTC1, MYBPC2, MYH6, MYL2, MYL3, MYH7

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1troponin C bindingGO:03017210.2TNNT2, TNNI3
2myosin heavy chain bindingGO:03203610.1MYBPC3, MYL2
3telethonin bindingGO:03143310.0CSRP3, TTN
4actin-dependent ATPase activityGO:03089810.0MYH6, MYH7
5troponin T bindingGO:03101410.0TNNI3, TNNC1
6actinin bindingGO:0428059.9CSRP3, TTN
7actin monomer bindingGO:0037859.9MYL3, MYL2
8myosin bindingGO:0170229.9ACTC1, MYBPC3
9troponin I bindingGO:0310139.9TNNT2, TNNC1
10microfilament motor activityGO:0001469.8MYH6, MYH7
11calcium-dependent protein bindingGO:0483069.7TNNI3, TNNC1
12ATPase activityGO:0168879.6ACTC1, MYH6, MYH7, TNNT2
13calmodulin bindingGO:0055169.2TTN, MYH7, MYH6
14actin bindingGO:0037798.7TNNT2, TNNI3, TPM1, MYBPC3, MYH7, MYH6
15calcium ion bindingGO:0055098.6TNNC1, TTN, MYL3, MYL2, CALR3
16structural constituent of muscleGO:0083078.5CSRP3, TTN, TPM1, MYBPC3, MYL3, MYL2

Products for genes affiliated with Hypertrophic Cardiomyopathy

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Sources for Hypertrophic Cardiomyopathy

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet