Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 33

Term ID
DOID:0111495
Synonyms
  • COXPD33
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. https://www.ncbi.nlm.nih.gov/pubmed/28942965
References
Ontology
Human Disease   ( DOID:0111495 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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