OBO ID: DOID:0110323
Term Name: hypertrophic cardiomyopathy 17 Search Ontology:
Synonyms:
  • cardiomyopathy familial hypertrophic 17
  • CMH17
Definition: A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. https://www.ncbi.nlm.nih.gov/pubmed/17509612
References:
Ontology: Human Disease   ( DOID:0110323 )
Relationships
is a type of:
OTHER hypertrophic cardiomyopathy 17 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
JPH2 Cardiomyopathy, hypertrophic, 17 613873
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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