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DO Term : peroxisomal acyl-CoA oxidase deficiency [DOID:0050797] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:264470,
  • Peroxisomal acyl-coenzyme A oxidase,
  • UMLS_CUI:C1849678,
  • MESH:C536662,
  • SNOMEDCT_US_2023_03_01:238069004,
  • ORDO:2971,
  • GARD:4543,
  • 264470,
  • NCI:C170437
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Ontology Term --> Direct children

Ontology Term --> Direct parents