COX deficiency, infantile mitochondrial myopathy Disease Ontology Browser

Home
Genes
Phenotypes
Human Disease
Expression
Recombinases
Function
Strains / SNPs
Homology
Tumors

About Help FAQ

Search
Download
More Resources
Submit Data
Find Mice (IMSR)
Analysis Tools
Contact Us
Browsers

Disease Ontology Browser

COX deficiency, infantile mitochondrial myopathy (DOID:0050713)
Alliance: disease page
Synonyms: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency; fatal infantile COX deficiency; fatal infantile cytochrome C oxidase deficiency; fatal infantile encephalocardiomyopathy
Alt IDs: ORDO:1561, UMLS_CUI:C4273730
Definition: A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/17/2024 MGI 6.24