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Metadata
ID DOID:0081160
Name dilated cardiomyopathy 2D
Definition A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.
https://pubmed.ncbi.nlm.nih.gov/32514796/
Xrefs

MIM:619371

Parent Relationships

is_a dilated cardiomyopathy

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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