Disease association ontology term - MONDO:0030300 - cardiomyopathy, dilated, 2D
Term summary
- ID
- MONDO:0030300
- Name
- cardiomyopathy, dilated, 2D
- Ontology or CV name
- Disease association
- 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.
