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