peroxisomal acyl-CoA oxidase deficiency

Summary

DOID:0050797 - peroxisomal acyl-CoA oxidase deficiency

Disease Ontology Definition:A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1.

Synonyms: Peroxisomal acyl-coenzyme A oxidase,

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

: acox1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009919 - peroxisomal acyl-CoA oxidase deficiency

MONDO:0009919 - peroxisomal acyl-CoA oxidase deficiency

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), peroxisomal disease (is_a)