Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0111474 - combined oxidative phosphorylation deficiency 1

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32.

Synonyms: COXPD1, early fatal progressive hepatoencephalopathy, hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, hepatoencephalopathy due to COXPD1

Xenbase Genes : gfm1


MIM:
MIM:609060 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1

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)