OBO ID: DOID:0111483
Term Name: combined oxidative phosphorylation deficiency 2 Search Ontology:
Synonyms:
  • agenesis of corpus callosum with dysmorphism and fatal lactic acidosis
  • COXPD2
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2. https://www.ncbi.nlm.nih.gov/pubmed/15505824
References:
Ontology: Human Disease   (DOID:0111483)
OTHER combined oxidative phosphorylation deficiency 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MRPS16 Combined oxidative phosphorylation deficiency 2 610498
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None