Search Ontology:
Human Disease

hypertrophic cardiomyopathy 17

Term ID
DOID:0110323
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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