Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/264470
http://purl.bioontology.org/ontology/OMIM/264470
Preferred Name

PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
Synonyms
PSEUDONEONATAL ADRENOLEUKODYSTROPHY
STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
PSEUDONEONATAL ADRENOLEUKODYSTROPHY
STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY
prefLabel
PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
Gene Symbol
SCOX
ACOX1
ACOX
MITCH
Scope Statement
Neurologic deterioration is severe after age 2 to 2.5 years [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutations in the peroxisomal acyl-CoA oxidase gene (ACOX1, 609751.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU003093
http://purl.bioontology.org/ontology/OMIM/MTHU000474
http://purl.bioontology.org/ontology/OMIM/MTHU009988
http://purl.bioontology.org/ontology/OMIM/MTHU009985
http://purl.bioontology.org/ontology/OMIM/MTHU000691
http://purl.bioontology.org/ontology/OMIM/MTHU009984
http://purl.bioontology.org/ontology/OMIM/MTHU009982
http://purl.bioontology.org/ontology/OMIM/MTHU003513
http://purl.bioontology.org/ontology/OMIM/MTHU000780
http://purl.bioontology.org/ontology/OMIM/MTHU036517
http://purl.bioontology.org/ontology/OMIM/MTHU009979
http://purl.bioontology.org/ontology/OMIM/MTHU001061
http://purl.bioontology.org/ontology/OMIM/MTHU009989
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU009980
http://purl.bioontology.org/ontology/OMIM/MTHU000712
http://purl.bioontology.org/ontology/OMIM/MTHU009976
http://purl.bioontology.org/ontology/OMIM/MTHU009987
http://purl.bioontology.org/ontology/OMIM/MTHU000958
http://purl.bioontology.org/ontology/OMIM/MTHU036443
http://purl.bioontology.org/ontology/OMIM/MTHU000088
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU037739
http://purl.bioontology.org/ontology/OMIM/MTHU005737
http://purl.bioontology.org/ontology/OMIM/MTHU009986
http://purl.bioontology.org/ontology/OMIM/MTHU036384
http://purl.bioontology.org/ontology/OMIM/MTHU009991
http://purl.bioontology.org/ontology/OMIM/MTHU009975
http://purl.bioontology.org/ontology/OMIM/MTHU036360
http://purl.bioontology.org/ontology/OMIM/MTHU000324
http://purl.bioontology.org/ontology/OMIM/MTHU009977
http://purl.bioontology.org/ontology/OMIM/MTHU009983
http://purl.bioontology.org/ontology/OMIM/MTHU000079
http://purl.bioontology.org/ontology/OMIM/MTHU009978
http://purl.bioontology.org/ontology/OMIM/MTHU009990
http://purl.bioontology.org/ontology/OMIM/MTHU000153
http://purl.bioontology.org/ontology/OMIM/MTHU000235
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
17q25.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
264470
Semantic type UMLS property
Has inheritance type
cui
C1849678
OMIM Entry Type
3
OMIM MimType Value
pound
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