Search Ontology:
Human Disease
mitochondrial complex IV deficiency nuclear type 14
- Term ID
- DOID:0070499
- Synonyms
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- MC4DN14
- Definition
- A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. https://pubmed.ncbi.nlm.nih.gov/25604084/
- References
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- MIM:619058
- UMLS_CUI:C5436710
- Ontology
- Human Disease ( DOID:0070499 )
- is a type of
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Genes Involved
Zebrafish Models