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Summary Literature (0)
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


MIM:
MIM:614922 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11

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)