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dilated cardiomyopathy 1O
Summary
- Synonym
-
- CMD1O
- dilated cardiomyopathy with ventricular tachycardia
- Definition
- A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1.
- Super Class
- dilated cardiomyopathy monogenic disease
External Links
- Disease Ontology
- DOID:0110451
- Mondo Disease Ontology
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60706 | ATP-binding cassette sub-family C member 9 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003457 | EMG abnormality |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0100578 | Lipoatrophy |
| HP:0000969 | Edema |
| HP:0012378 | Fatigue |
| HP:0002875 | Exertional dyspnea |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0011675 | Arrhythmia |
| HP:0001727 | Thromboembolic stroke |
| HP:0012764 | Orthopnea |
