FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term peroxisomal acyl-CoA oxidase deficiency ID (Ontology) DOID:0050797 (Human Disease)
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.
Also Known As "Peroxisomal acyl-coenzyme A oxidase"
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 peroxisomal acyl-CoA oxidase deficiency       4      1
 for disease ribbon | peroxisomal acyl-CoA oxidase deficiency       4       --
 model of | peroxisomal acyl-CoA oxidase deficiency       4       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
inherited metabolic disorder     |
 |__peroxisomal disease__________|
                                 peroxisomal acyl-CoA oxidase deficiency  5 rec.
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Is a autosomal recessive disease
peroxisomal disease
Part of
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Synonyms
  • "Peroxisomal acyl-coenzyme A oxidase" EXACT
Secondary IDs
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GARD:4543
MESH:C536662
MIM:264470
NCI:C170437
ORDO:2971
SNOMEDCT_US_2023_03_01:238069004
UMLS_CUI:C1849678