infantile histiocytoid cardiomyopathy

Term ID

DOID:0080198

Synonyms

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. https://www.ncbi.nlm.nih.gov/pubmed/10960495

References

• GARD:9511
• OMIM:500000

Ontology

Human Disease   ( DOID:0080198 )