Search Ontology:
Human Disease
peroxisomal acyl-CoA oxidase deficiency
- Term ID
- DOID:0050797
- Synonyms
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- 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
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- GARD:4543
- MESH:C536662
- MIM:264470
- NCI:C170437
- ORDO:2971
- SNOMEDCT_US_2023_03_01:238069004
- UMLS_CUI:C1849678
- Ontology
- Human Disease ( DOID:0050797 )
- is a type of
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Genes Involved
Zebrafish Models