Disease

mitochondrial complex IV deficiency nuclear type 15

Name: mitochondrial complex IV deficiency nuclear type 15
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1. MC4DN15

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1.

Synonyms

MC4DN15

Cross References

MIM:619059
UMLS_CUI:C5436712

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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