Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 55
- Term ID
- DOID:0070428
- Synonyms
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- COXPD55
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/33602924/
- References
- Ontology
- Human Disease ( DOID:0070428 )
- is a type of
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