OBO ID: DOID:0111473
Term Name: combined oxidative phosphorylation deficiency 5 Search Ontology:
Synonyms:
  • COXPD5
  • hypotonia with lactic acidemia and hyperammonemia
Definition: A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonaemia that has_material_basis_in homozygous or compound heterozygous mutation in MRPS22 on chromosome 3q23. (2)
References:
Ontology: Human Disease   (DOID:0111473)
OTHER combined oxidative phosphorylation deficiency 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MRPS22 Combined oxidative phosphorylation deficiency 5 611719
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None