Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 51

Term ID
DOID:0112137
Synonyms
  • COXPD51
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. https://pubmed.ncbi.nlm.nih.gov/30607703/
References
Ontology
Human Disease   ( DOID:0112137 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models