combined oxidative phosphorylation deficiency 1

Summary

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 COXPD1, hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gfm1

Other Model Organisms: AGR, 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)