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ID DOID:0081161
Name dilated cardiomyopathy 2E
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.
https://pubmed.ncbi.nlm.nih.gov/30384889/, https://pubmed.ncbi.nlm.nih.gov/31227780/
Xrefs

MIM:619492

Parent Relationships

is_a dilated cardiomyopathy

is_a autosomal recessive disease

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