OBO ID: DOID:0112110
Term Name: combined oxidative phosphorylation deficiency 49 Search Ontology:
Synonyms:
  • COXPD49
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MIEF2 on chromosome 17p11.2. https://pubmed.ncbi.nlm.nih.gov/29361167/
References:
Ontology: Human Disease   (DOID:0112110)
OTHER combined oxidative phosphorylation deficiency 49 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MIEF2 ?Combined oxidative phosphorylation deficiency 49 619024
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None