combined oxidative phosphorylation deficiency 21 Disease Ontology Browser

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combined oxidative phosphorylation deficiency 21 (DOID:0111465)
Alliance: disease page
Synonyms: COXPD21
Alt IDs: OMIM:615918, ORDO:420733
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 the TARS2 gene on chromosome 1q21.2.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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