OBO ID: DOID:0112115
Term Name: combined oxidative phosphorylation deficiency 46 Search Ontology:
Synonyms:
  • COXPD46
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS23 on chromosome 17q22. https://pubmed.ncbi.nlm.nih.gov/26741492/
References:
Ontology: Human Disease   (DOID:0112115)
OTHER combined oxidative phosphorylation deficiency 46 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MRPS23 ?Combined oxidative phosphorylation deficiency 46 618952
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None