General Information of Disease (ID: DISOBOCR)

Disease Name Fatal infantile encephalocardiomyopathy
Synonyms
fatal infantile encephalomyopathy; fatal infantile cytochrome C oxidase deficiency; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency; fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency; fatal infantile COX deficiency; cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
Definition Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.|Editor note: check GARD xref
Disease Hierarchy
DIS9SA7V: Mitochondrial myopathy
DISBA1TN: Familial cardiomyopathy
DISK7IP8: Mitochondrial oxidative phosphorylation disorder
DISOBOCR: Fatal infantile encephalocardiomyopathy
Disease Identifiers
MONDO ID
MONDO_0015487
UMLS CUI
C4273730
MedGen ID
903874
Orphanet ID
1561
SNOMED CT ID
718124006