Search Ontology:
Human Disease

peroxisomal acyl-CoA oxidase deficiency

Term ID
DOID:0050797
Synonyms
  • Peroxisomal acyl-coenzyme A oxidase
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. (5)
References
Ontology
Human Disease   ( DOID:0050797 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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