FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Mitchell syndrome ID (Ontology) DOID:0070516 (Human Disease)
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.
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       4
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 Mitchell syndrome       5      6      1
 ameliorates | Mitchell syndrome       2       --       --
 for disease ribbon | Mitchell syndrome       --       4       --
 model of | Mitchell syndrome       3      4       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
inherited metabolic disorder    |
 |__peroxisomal disease_________|
                                Mitchell syndrome  12 rec.
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Is a autosomal dominant disease
peroxisomal disease
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MIM:618960
ORDO:631248
UMLS_CUI:C5394554