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Human Disease

combined oxidative phosphorylation deficiency 46

Term ID
DOID:0112115
Synonyms
  • COXPD46
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22. https://pubmed.ncbi.nlm.nih.gov/26741492/
References
Ontology
Human Disease   ( DOID:0112115 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models