Search Ontology:
Human Disease

mitochondrial complex IV deficiency nuclear type 4

Term ID
DOID:0070493
Synonyms
  • MC4DN4
Definition
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1. (2)
References
Ontology
Human Disease   ( DOID:0070493 )
Relationships
is a type of
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Genes Involved
Zebrafish Models