Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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

Disease Browser
Parent Node: Gangliosidosis, GM1 (D016537)
Parent Node: Heart Diseases (D006331)
..Starting node ..Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement (C566895)
Child Nodes:
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:	4500
Name:	Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement
Definition:
Alternative IDs:
ParentIDs:	MESH:D006331\|MESH:D016537
TreeNumbers:	C10.228.140.163.100.435.825.300.400/C566895 \|C14.280/C566895 \|C16.320.565.189.435.825.300.400/C566895 \|C16.320.565.398.641.803.350.360/C566895 \|C16.320.565.595.554.825.300.400/C566895 \|C18.452.132.100.435.825.300.400/C566895 \|C18.452.584.687.803.350.360/C56689
Synonyms:	Gm1 Gangliosidosis, Type I, with Cardiac Involvement
Slim Mappings:	Cardiovascular disease\|Genetic disease (inborn)\|Metabolic disease\|Nervous system disease
Reference:	MedGen: C566895 MeSH: C566895 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants