Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 59

Term ID
DOID:0061400
Synonyms
  • COXPD59
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL39 gene on chromosome 21q21.3. https://pubmed.ncbi.nlm.nih.gov/37133451/
References
Ontology
Human Disease   ( DOID:0061400 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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