ZFIN Human Disease: dilated cardiomyopathy 2E

OBO ID: DOID:0081161

Term Name:	dilated cardiomyopathy 2E		Search Ontology:
Synonyms:
Definition:	A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13. (2)
References:	OMIM:619492
Ontology:	Human Disease ( DOID:0081161 )

Relationships

is a type of:	autosomal recessive disease dilated cardiomyopathy autosomal recessive disease dilated cardiomyopathy Show first 5 Terms

OTHER dilated cardiomyopathy 2E PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
JPH2	jph2	Cardiomyopathy, dilated, 2E	619492

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None