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DOID:0111481 - combined oxidative phosphorylation deficiency 11
Disease Ontology Definition:A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1.
Synonyms: COXPD11, infantile encephaloneuromyopathy due to mitochondrial translation defect,
Xenbase Genes : rmnd1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee