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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:0001276 | Hypertonia |
| HP:0000639 | Nystagmus |
| HP:0002240 | Hepatomegaly |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0001522 | Death in infancy |
| HP:0010864 | Intellectual disability, severe |
| HP:0001161 | Hand polydactyly |
| HP:0000316 | Hypertelorism |
| HP:0001252 | Hypotonia |
| HP:0002093 | Respiratory insufficiency |
