Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 40

Term ID
DOID:0112117
Synonyms
  • COXPD40
  • QRSL1-related COXPD
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21. https://pubmed.ncbi.nlm.nih.gov/26741492/
References
Ontology
Human Disease   ( DOID:0112117 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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