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peroxisomal acyl-CoA oxidase deficiency
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease peroxisomal disease
External Links
- Disease Ontology
- DOID:0050797
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15067 | Peroxisomal acyl-coenzyme A oxidase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000369 | Low-set ears |
| HP:0001508 | Failure to thrive |
| HP:0012639 | Abnormal nervous system morphology |
| HP:0001288 | Gait disturbance |
| HP:0000648 | Optic atrophy |
| HP:0002353 | EEG abnormality |
| HP:0000486 | Strabismus |
| HP:0001939 | Abnormality of metabolism/homeostasis |
| HP:0001250 | Seizure |
| HP:0007305 | CNS demyelination |
