About   Help   FAQ
Disease Ontology Browser
combined oxidative phosphorylation deficiency 14 (DOID:0111477)
Alliance: disease page
Synonyms: COXPD14
Alt IDs: OMIM:614946, ORDO:319519
Definition: A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in FARS2 on chromosome 6p25.1.


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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
10/13/2020
MGI 6.16
The Jackson Laboratory