hypertrophic cardiomyopathy 27

Term ID

DOID:0061102

Synonyms

CMH27
familial hypertrophic cardiomyopathy 27

Definition

A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25. https://pubmed.ncbi.nlm.nih.gov/26846950/

References

Ontology

Human Disease ( DOID:0061102 )

Relationships

is a type of: autosomal recessive disease familial hypertrophic cardiomyopathy

autosomal recessive disease familial hypertrophic cardiomyopathy Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models