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
Displaying 1 entry
Gene ID Gene Symbol Description Source
9173 IL1RL1 interleukin 1 receptor like 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q01638 Interleukin-1 receptor-like 1

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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024