Search Ontology:
Human Disease
mitochondrial complex V (ATP synthase) deficiency nuclear type 7
- Term ID
- DOID:0070464
- Synonyms
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- MC5DN7
- Definition
- A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11. (2)
- References
- Ontology
- Human Disease ( DOID:0070464 )
- is a type of
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