Search Ontology:
Human Disease
mitochondrial complex IV deficiency nuclear type 3
- Term ID
- DOID:0070492
- Synonyms
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- MC4DN3
- Definition
- A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12. (2)
- References
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- MIM:619046
- UMLS_CUI:C5436682
- Ontology
- Human Disease ( DOID:0070492 )
- is a type of
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Genes Involved
Zebrafish Models