Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 47
- Term ID
- DOID:0112114
- Synonyms
-
- COXPD47
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13. https://pubmed.ncbi.nlm.nih.gov/30566640/
- References
- Ontology
- Human Disease ( DOID:0112114 )
- is a type of
-
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