About   Help   FAQ
Disease Ontology Browser
combined oxidative phosphorylation deficiency 2 (DOID:0111483)
Alliance: disease page
Synonyms: agenesis of corpus callosum with dysmorphism and fatal lactic acidosis; COXPD2
Alt IDs: OMIM:610498, ORDO:254920
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2.


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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/18/2020
MGI 6.14
The Jackson Laboratory