OBO ID: DOID:0112113
Term Name: combined oxidative phosphorylation deficiency 45 Search Ontology:
Synonyms:
  • COXPD45
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPL12 on chromosome 17q25.3. https://pubmed.ncbi.nlm.nih.gov/23603806/
References:
Ontology: Human Disease   (DOID:0112113)
OTHER combined oxidative phosphorylation deficiency 45 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MRPL12 ?Combined oxidative phosphorylation deficiency 45 618951
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None