Search Ontology:
Human Disease

hypertrophic cardiomyopathy 18

Term ID
DOID:0110324
Synonyms
  • cardiomyopathy familial hypertrophic 18
  • CMH18
Definition
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1. https://www.ncbi.nlm.nih.gov/pubmed/12705874
References
Ontology
Human Disease   ( DOID:0110324 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations