Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 50
- Term ID
- DOID:0112111
- Synonyms
-
- COXPD50
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1. https://pubmed.ncbi.nlm.nih.gov/31039582/
- References
- Ontology
- Human Disease ( DOID:0112111 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models