FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hypertrophic cardiomyopathy 18 ID (Ontology) DOID:0110324 (Human Disease)
Definition A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1.
Also Known As "cardiomyopathy familial hypertrophic 18" ; "CMH18"
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Human Disease Models (FBhh)  DOID       1
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 hypertrophic cardiomyopathy 18       1
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  hypertrophic cardiomyopathy
   |__familial hypertrophic cardiomyopathy
       |__hypertrophic cardiomyopathy 18  1 rec.
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Is a familial hypertrophic cardiomyopathy
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Synonyms
  • "cardiomyopathy familial hypertrophic 18" EXACT
    "CMH18" EXACT OMO:0003012
Secondary IDs
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MIM:613874