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dilated cardiomyopathy 1GG
Summary
- Synonym
-
- CMD1GG
- Definition
- A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33.
- Super Class
- dilated cardiomyopathy monogenic disease
External Links
- Disease Ontology
- DOID:0110435
- Mondo Disease Ontology
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P31040 | Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003198 | Myopathy |
| HP:0100578 | Lipoatrophy |
| HP:0002098 | Respiratory distress |
| HP:0008314 | Decreased activity of mitochondrial complex II |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003593 | Infantile onset |
| HP:0012664 | Reduced left ventricular ejection fraction |
