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Metadata
ID DOID:0081159
Name dilated cardiomyopathy 2C
Definition A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.
https://pubmed.ncbi.nlm.nih.gov/29754768/
Xrefs

MIM:618189

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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