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Metadata
ID DOID:0110212
Name Charcot-Marie-Tooth disease X-linked recessive 4
Definition A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26.
https://www.ncbi.nlm.nih.gov/pubmed/23217327
Xrefs

ICD10CM:G60.0

MIM:310490

ORDO:101078

Subsets

DO_rare_slim

Synonyms

axonal motor sensory neuropathy with deafness and mental retardation [EXACT]

Charcot-Marie-Tooth disease with deafness and mental retardation [EXACT]

CMT4X [EXACT]

CMTX4 [EXACT]

Cowchock syndrome [EXACT]

NADMR [EXACT]

NAMSD [EXACT]

X-linked Charcot-Marie-Tooth disease type 4 [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a Charcot-Marie-Tooth disease type X

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