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Mitchell syndrome
Summary
- Definition
- A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1.
- Super Class
- autosomal dominant disease peroxisomal disease
External Links
- Disease Ontology
- DOID:0070516
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001298 | Encephalopathy |
| HP:0012332 | Abnormal autonomic nervous system physiology |
| HP:0002015 | Dysphagia |
| HP:0002522 | Areflexia of lower limbs |
