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/32169171/, https://pubmed.ncbi.nlm.nih.gov/37400800/ |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a peroxisomal disease |