Metadata | |
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ID | DOID:0061102 |
Name | hypertrophic cardiomyopathy 27 |
Definition | A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25. https://pubmed.ncbi.nlm.nih.gov/26846950/ |
Synonyms |
CMH27 [EXACT] familial hypertrophic cardiomyopathy 27 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |