Disease

mitochondrial complex IV deficiency nuclear type 9

Name: mitochondrial complex IV deficiency nuclear type 9
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. [object Object] [object Object]

Definition

A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11.

Synonyms

fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3
MC4DN9

Cross References

MIM:616500
UMLS_CUI:C4225154

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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