MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: intrinsic cardiomyopathy (MONDO:0000591)
..Starting node ..hypertrophic cardiomyopathy ()
Child Nodes:
........dilated cardiomyopathy 1KK ()
........familial hypertrophic cardiomyopathy ()
........non-familial hypertrophic cardiomyopathy ()
........rare familial disorder with hypertrophic cardiomyopathy ()
Sister Nodes:
..arrhythmogenic right ventricular cardiomyopathy ()
..dilated cardiomyopathy ()
..hypertrophic cardiomyopathy ()
..left ventricular noncompaction ()
..myocarditis ()
..restrictive cardiomyopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5045
Name:	hypertrophic cardiomyopathy
Definition:	A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	familial hypertrophic cardiomyopathy; HCM - hypertrophic cardiomyopathy; hypertrophic cardiomyopathy; hypertrophic obstructive cardiomyopathy; hypertrophic subaortic stenosis; obstructive hypertrophic cardiomyopathy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal