Search Ontology:
Human Disease

hypertrophic cardiomyopathy 6

Term ID
DOID:0110312
Synonyms
  • cardiomyopathy, familial hypertrophic 6
  • CMH6
Definition
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2). https://www.ncbi.nlm.nih.gov/pubmed/11586962
References
Ontology
Human Disease   ( DOID:0110312 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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