Disease browser and phenotype portal

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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

Disease Browser
Parent Node: Heart Diseases (D006331)
..Starting node ..Heart Failure (D006333)
Child Nodes:
........Cardio-Renal Syndrome (D059347)
........Dyspnea, Paroxysmal (D004418)
........Edema, Cardiac (D004489)
........Heart Failure, Diastolic (D054144)
........Heart Failure, Systolic (D054143)
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:	4942
Name:	Heart Failure
Definition:	A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.
Alternative IDs:
ParentIDs:	MESH:D006331
TreeNumbers:	C14.280.434
Synonyms:	Cardiac Failure \|Congestive Heart Failure \|Decompensation, Heart \|Heart Decompensation \|Heart Failure, Congestive \|Heart Failure, Left Sided \|Heart Failure, Left-Sided \|Heart Failure, Right Sided \|Heart Failure, Right-Sided \|Left Sided Heart Failure \|Left-Sided He
Slim Mappings:	Cardiovascular disease
Reference:	MedGen: D006333 MeSH: D006333 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants