| Metadata | |
|---|---|
| ID | DOID:0070516 |
| Name | Mitchell syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/37400800/, https://pubmed.ncbi.nlm.nih.gov/32169171/ |
| Xrefs | |
| SKOS |
exactMatch ORDO:631248 exactMatch MIM:618960 exactMatch UMLS_CUI:C5394554 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant disease is_a peroxisomal disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |