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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

MIM:618960

ORDO:631248

UMLS_CUI:C5394554

Subsets

DO_rare_slim

Parent Relationships

is_a peroxisomal disease

is_a autosomal dominant disease

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