Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 27
- Term ID
- DOID:0111489
- Synonyms
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- COXPD27
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34. (2)
- References
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- MIM:616672
- ORDO:477774
- Ontology
- Human Disease ( DOID:0111489 )
- is a type of
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