OBO ID: DOID:0111498
Term Name: combined oxidative phosphorylation deficiency 22 Search Ontology:
Synonyms:
  • COXPD22
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in ATP5A1 on chromosome 18q21.1. https://www.ncbi.nlm.nih.gov/pubmed/23596069
References:
Ontology: Human Disease   (DOID:0111498)
OTHER combined oxidative phosphorylation deficiency 22 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP5F1A ?Combined oxidative phosphorylation deficiency 22 616045
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None