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dilated cardiomyopathy 1H
Summary
- Synonym
-
- dilated cardiomyopathy with conduction defect
- Definition
- A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.
- Super Class
- dilated cardiomyopathy monogenic disease
External Links
- Disease Ontology
- DOID:0110429
- Mondo Disease Ontology
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P01909 | HLA class II histocompatibility antigen, DQ alpha 1 chain | |
| P01920 | HLA class II histocompatibility antigen, DQ beta 1 chain | |
| P13945 | Beta-3 adrenergic receptor |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000969 | Edema |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001635 | Congestive heart failure |
| HP:0001727 | Thromboembolic stroke |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0002875 | Exertional dyspnea |
| HP:0003198 | Myopathy |
| HP:0012378 | Fatigue |
| HP:0003457 | EMG abnormality |
| HP:0011675 | Arrhythmia |
