Metadata | |
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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/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |