Search Ontology:
Human Disease

Mitchell syndrome

Term ID
DOID:0070516
Synonyms
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. (2)
References
  • MIM:618960
  • ORDO:631248
  • SNOMEDCT_US_2025_09_01:1300194008
  • UMLS_CUI:C5394554
Ontology
Human Disease   ( DOID:0070516 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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