OBO ID: DOID:0050797
Term Name: peroxisomal acyl-CoA oxidase deficiency Search Ontology:
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 peroxisomal acyl-CoA oxidase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ACOX1 Peroxisomal acyl-CoA oxidase deficiency 264470
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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