Disease

mitochondrial complex IV deficiency nuclear type 6

Name: mitochondrial complex IV deficiency nuclear type 6
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 MC4DN6

Definition

A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24.

Synonyms

fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2
MC4DN6

Cross References

MIM:615119
UMLS_CUI:C3554534

Parent Terms

autosomal recessive disease
COX deficiency, infantile mitochondrial myopathy

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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