Disease browser and phenotype portal

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MSeqDR-LSDB
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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Heart Diseases (D006331)
..Starting node ..Cardiomyopathies (D009202)
Child Nodes:
........Alpha-B Crystallinopathy (C563848)
........Arrhythmogenic Right Ventricular Dysplasia (D019571) 13
........Ataxia, Deafness, and Cardiomyopathy (C565932)
........Atrial Standstill (C563984)
........Cardiac Lipidosis, Familial (C565884)
........Cardiomyopathy Associated With Myopathy And Sudden Death (C565881)
........Cardiomyopathy dilated with Woolly hair and keratoderma (C535581)
........Cardiomyopathy hypogonadism collagenoma syndrome (C535582)
........Cardiomyopathy, Alcoholic (D002310)
........Cardiomyopathy, Dilated (D002311) 40
........Cardiomyopathy, fatal fetal, due to myocardial calcification (C543241)
........Cardiomyopathy, Hypertrophic (D002312) 20
........Cardiomyopathy, infantile histiocytoid (C535584)
........Cardiomyopathy, Restrictive (D002313) 3
........Cardioneuromyopathy with Hyaline Masses and Nemaline Rods (C564655)
........Cataract and cardiomyopathy (C538280)
........Chagas Cardiomyopathy (D002598)
........Diabetic Cardiomyopathies (D058065)
........Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
........Endocardial Fibroelastosis (D004695) 9
........Endomyocardial Fibrosis (D004719)
........Glycogen Storage Disease Type IIb (D052120)
........Hypertaurinuric Cardiomyopathy (C564157)
........Kearns-Sayre Syndrome (D007625) 1
........Keshan disease (C536166)
........Muscular Dystrophy, Cardiac Type (C563247)
........Myocardial Reperfusion Injury (D015428)
........Myocarditis (D009205)
........Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
........Myopathy, Myofibrillar, Desmin-Related (C563319)
........Najjar syndrome (C535580)
........Roifman syndrome (C535866)
........Sarcoglycanopathies (D058088) 3
........Systemic carnitine deficiency (C536778)
........Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
........Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
Sister Nodes:
..Arrhythmias, Cardiac (D001145) 112
..Carcinoid Heart Disease (D002275)
..Cardiac Output, High (D016534)
..Cardiac Output, Low (D002303)
..Cardiac Tamponade (D002305)
..Cardiomegaly (D006332) 46
..Cardiomyopathies (D009202) 124
..Endocarditis (D004696) 3
..Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement (C566895)
..Glycogen Storage Disease of Heart, Lethal Congenital (C564888)
..Heart Aneurysm (D006322)
..Heart Arrest (D006323) 3
..Heart Defects, Congenital (D006330) 285
..Heart Failure (D006333) 5
..Heart Neoplasms (D006338) 3
..Heart Rupture (D006341) 2
..Heart Valve Diseases (D006349) 76
..Myocardial Ischemia (D017202) 28
..Pericardial Effusion (D010490) 1
..Pericarditis (D010493) 3
..Pneumopericardium (D011026)
..Postpericardiotomy Syndrome (D011185)
..Pulmonary Heart Disease (D011660)
..Rheumatic Heart Disease (D012214)
..Ventricular Dysfunction (D018754) 4
..Ventricular Outflow Obstruction (D014694) 44
..Yorifuji Okuno syndrome (C536714)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1704
Name:	Cardiomyopathies
Definition:	A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).
Alternative IDs:
ParentIDs:	MESH:D006331
TreeNumbers:	C14.280.238
Synonyms:	Cardiomyopathies, Primary \|Cardiomyopathies, Secondary \|Cardiomyopathy \|Cardiomyopathy, Primary \|Cardiomyopathy, Secondary \|Disease, Myocardial \|Disease, Primary Myocardial \|Disease, Secondary Myocardial \|Diseases, Myocardial \|Diseases, Primary Myocardial \|Disease
Slim Mappings:	Cardiovascular disease
Reference:	MedGen: D009202 MeSH: D009202 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants