# peroxisomal acyl-CoA oxidase deficiency

> peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy

**Wikidata**: [Q18553481](https://www.wikidata.org/wiki/Q18553481)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Acyl-CoA_oxidase_deficiency)  
**Source**: https://4ort.xyz/entity/peroxisomal-acyl-coa-oxidase-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96026ae4-050d-4eb5-849c-178c703a556e-2019-12-06T170000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000161533/MONDO_0009919)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)