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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:0000510 | Rod-cone dystrophy |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003623 | Neonatal onset |
| HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude |
| HP:0002015 | Dysphagia |
| HP:0000248 | Brachycephaly |
| HP:0000431 | Wide nasal bridge |
| HP:0006555 | Diffuse hepatic steatosis |
| HP:0008619 | Bilateral sensorineural hearing impairment |
| HP:0001332 | Dystonia |
