Metadata | |
---|---|
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 | |
Parent Relationships |