OBO ID: DOID:0111468
Term Name: combined oxidative phosphorylation deficiency 25 Search Ontology:
Synonyms:
  • COXPD25
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MARS2 on chromosome 2q33.1. https://www.ncbi.nlm.nih.gov/pubmed/25754315
References:
Ontology: Human Disease   (DOID:0111468)
OTHER combined oxidative phosphorylation deficiency 25 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MARS2 ?Combined oxidative phosphorylation deficiency 25 616430
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None