Search Ontology:
Human Disease
mitochondrial complex IV deficiency nuclear type 16
- Term ID
- DOID:0070501
- Synonyms
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- MC4DN16
- Definition
- A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. https://pubmed.ncbi.nlm.nih.gov/31290619/
- References
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- MIM:619060
- UMLS_CUI:C5436714
- Ontology
- Human Disease ( DOID:0070501 )
- is a type of
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Genes Involved
Zebrafish Models