Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 33
- Term ID
- DOID:0111495
- Synonyms
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- COXPD33
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. https://www.ncbi.nlm.nih.gov/pubmed/28942965
- References
- Ontology
- Human Disease ( DOID:0111495 )
- is a type of
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