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Metadata
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

MIM:619433

Synonyms

RCM6 [EXACT]

restrictive cardiomyopathy 6 [EXACT]

Parent Relationships

is_a restrictive cardiomyopathy

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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