Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 49
- Term ID
- DOID:0112110
- Synonyms
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- COXPD49
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2. https://pubmed.ncbi.nlm.nih.gov/29361167/
- References
- Ontology
- Human Disease ( DOID:0112110 )
- is a type of
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