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Disease association ontology term - MONDO:0015487 - fatal infantile encephalocardiomyopathy

Term summary

ID
MONDO:0015487
Name
fatal infantile encephalocardiomyopathy
Ontology or CV name
Disease association
Definition
Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.

Parents

Annotation

Disease association

MONDO:0015487 - fatal infantile encephalocardiomyopathy

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Genes:

MONDO:0011451 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

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MONDO:0014051 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

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MONDO:0014667 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

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MONDO:0014668 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

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