|OBO ID: DOID:0111465|
|Term Name:||combined oxidative phosphorylation deficiency 21||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0111465)|
|is a type of:||
OTHER combined oxidative phosphorylation deficiency 21 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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