Search Ontology:
Human Disease
mitochondrial complex IV deficiency nuclear type 22
- Term ID
- DOID:0070507
- Synonyms
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- MC4DN22
- Definition
- A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2. https://pubmed.ncbi.nlm.nih.gov/33169484/
- References
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- MIM:619355
- UMLS_CUI:C5543491
- Ontology
- Human Disease ( DOID:0070507 )
- is a type of
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Genes Involved
Zebrafish Models