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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:0003596 | Middle age onset |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003621 | Juvenile onset |
| HP:0001681 | Angina pectoris |
| HP:0011711 | Left anterior fascicular block |
| HP:0001631 | Atrial septal defect |
| HP:0002094 | Dyspnea |
| HP:0011713 | Left bundle branch block |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0004756 | Ventricular tachycardia |
