Metadata | |
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ID | DOID:0061025 |
Name | familial restrictive cardiomyopathy 6 |
Definition | A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31. https://pubmed.ncbi.nlm.nih.gov/29357359/ |
Xrefs | |
Synonyms |
RCM6 [EXACT] restrictive cardiomyopathy 6 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |