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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: Barth Syndrome (D056889)
..Starting node ..Dilated cardiomyopathy, neutropenia, skeletal myopathy, and abnormal mitochondria (C538496)
Child Nodes:
Sister Nodes:
..Dilated cardiomyopathy, neutropenia, skeletal myopathy, and abnormal mitochondria (C538496)
..Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked (C564571)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3379
Name:	Dilated cardiomyopathy, neutropenia, skeletal myopathy, and abnormal mitochondria
Definition:
Alternative IDs:
ParentIDs:	MESH:D056889
TreeNumbers:	C14.240.400.172/C538496 \|C14.280.400.172/C538496 \|C16.131.077.121/C538496 \|C16.131.240.400.172/C538496 \|C16.320.322.068/C538496 \|C16.320.565.398.224/C538496 \|C18.452.648.398.224/C538496
Synonyms:
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Genetic disease (inborn)\|Metabolic disease
Reference:	MedGen: C538496 MeSH: C538496 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants