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Summary Literature (0)
DOID:0111483 - combined oxidative phosphorylation deficiency 2

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2.

Synonyms: agenesis of corpus callosum with dysmorphism and fatal lactic acidosis, COXPD2

Xenbase Genes : mrps16


MIM:
MIM:610498 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), combined oxidative phosphorylation deficiency (is_a)