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hypertrophic cardiomyopathy 11
Summary
- Synonym
-
- CMH11
- cardiomyopathy familial hypertrophic 11
- Definition
- A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.
- Super Class
- familial hypertrophic cardiomyopathy
External Links
- Disease Ontology
- DOID:0110317
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P68032 | Actin, alpha cardiac muscle 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0003584 | Late onset |
