OBO ID: DOID:0111465
Term Name: combined oxidative phosphorylation deficiency 21 Search Ontology:
Synonyms:
  • COXPD21
Definition: A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in TARS2 on chromosome 1q21.2. https://www.ncbi.nlm.nih.gov/pubmed/24827421
References:
Ontology: Human Disease   (DOID:0111465)
OTHER combined oxidative phosphorylation deficiency 21 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TARS2 Combined oxidative phosphorylation deficiency 21 615918
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None