(Q60195356)

English

fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2

fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has material basis in compound heterozygous mutation in the COX15 gene on chromosome 10q24

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class of disease

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autosomal recessive disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

fatal infantile encephalocardiomyopathy

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

1 reference

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

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WikiProject Medicine

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http://purl.obolibrary.org/obo/DOID_0080358

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0080358

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

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