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Human Disease

dilated cardiomyopathy 2D

Term ID
DOID:0081160
Synonyms
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/
References
Ontology
Human Disease   ( DOID:0081160 )
Relationships
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Genes Involved
Zebrafish Models