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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: Isolated Noncompaction of the Ventricular Myocardium (D056830)
..Starting node ..Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2 (C563712)
Child Nodes:
Sister Nodes:
..Cardiomyopathy, Dilated, with Left Ventricular Noncompaction (C565277)
..LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
..LEFT VENTRICULAR NONCOMPACTION 2 (OMIM:609470)
..Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 (C565821)
..Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2 (C563712)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8096
Name:	Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2
Definition:
Alternative IDs:
ParentIDs:	MESH:D056830
TreeNumbers:	C14.240.400.660/C563712 \|C14.280.238.281.500/C563712 \|C14.280.400.660/C563712 \|C16.131.077.477/C563712 \|C16.131.240.400.655/C563712 \|C16.320.322.370/C563712
Synonyms:
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Genetic disease (inborn)
Reference:	MedGen: C563712 MeSH: C563712 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants