Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 54
- Term ID
- DOID:0070427
- Synonyms
-
- COXPD54
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13. https://pubmed.ncbi.nlm.nih.gov/34715011/
- References
- Ontology
- Human Disease ( DOID:0070427 )
- is a type of
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