Disease

mitochondrial complex IV deficiency nuclear type 22

Name: mitochondrial complex IV deficiency nuclear type 22
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2. MC4DN22

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2.

Synonyms

MC4DN22

Cross References

MIM:619355
UMLS_CUI:C5543491

Parent Terms

autosomal recessive disease
COX deficiency, benign 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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