Search Ontology:
Human Disease
mitochondrial complex IV deficiency nuclear type 23
- Term ID
- DOID:0070485
- Synonyms
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- MC4DN23
- Definition
- A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. https://pubmed.ncbi.nlm.nih.gov/36030551/
- References
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- MIM:620275
- UMLS_CUI:C5830322
- Ontology
- Human Disease ( DOID:0070485 )
- is a type of
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Genes Involved
Zebrafish Models