Search Ontology:

Human Disease

mitochondrial complex IV deficiency nuclear type 11

Term ID

DOID:0070497

Synonyms

MC4DN11

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44. (2)

References

OMIM:619054
UMLS_CUI:C5436694

Ontology

Human Disease ( DOID:0070497 )

Relationships

is a type of: autosomal recessive disease COX deficiency, benign infantile mitochondrial myopathy

autosomal recessive disease COX deficiency, benign infantile mitochondrial myopathy Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models

Citations