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Disease Ontology Browser
combined oxidative phosphorylation deficiency 11 (DOID:0111481)
Alliance: disease page
Synonyms: COXPD11; infantile encephaloneuromyopathy due to mitochondrial translation defect
Alt IDs: OMIM:614922, ORDO:324535
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.

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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory