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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models