cardiomyopathy
MONDO:0004994Mondo
Findings
No curated finding names cardiomyopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.
Definition from the Mondo Disease Ontology (MONDO:0004994), read 2026-09-29. CC BY 4.0.
Genes
8 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FHL2HGNC:3703
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- SLC30A5HGNC:19089
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- BRAPHGNC:1099
- Limited · LiferaOmics · Autosomal recessive · 2026
- PTCD1HGNC:22198
- Limited · PanelApp Australia · Autosomal recessive · 2025
- SLC2A6HGNC:11011
- Limited · Ambry Genetics · Autosomal dominant · 2020
- SOD2HGNC:11180
- Limited · Ambry Genetics · Autosomal recessive · 2019
- TNNT2HGNC:11949
- Limited · Ambry Genetics · Autosomal recessive · 2024
- TRIB3HGNC:16228
- Limited · Ambry Genetics · Autosomal dominant · 2020
Where it sits
- A kind of
- Narrower terms (12)
Other names
1 name
Resolves to: cardiomyopathy
- Also called
- Cardiomyopathies