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Metadata
ID DOID:0110207
Name Charcot-Marie-Tooth disease X-linked dominant 6
Definition A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22.
https://www.ncbi.nlm.nih.gov/pubmed/23297365
Xrefs

ICD10CM:G60.0

OMIM:300905

ORDO:352675

Subsets

DO_rare_slim

Synonyms

Charcot-Marie-Tooth neuropathy X-linked dominant 6 [EXACT]

CMT6X [EXACT]

CMTX6 [EXACT]

X-linked Charcot-Marie-Tooth disease type 6 [EXACT]

Parent Relationships

is_a X-linked dominant disease

is_a Charcot-Marie-Tooth disease type X

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