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infantile histiocytoid cardiomyopathy
Summary
- Definition
- An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b.
- Super Class
- intrinsic cardiomyopathy monogenic disease
External Links
- Disease Ontology
- DOID:0080198
- Mondo Disease Ontology
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q01638 | Interleukin-1 receptor-like 1 |
