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Metadata
ID DOID:0110209
Name Charcot-Marie-Tooth disease X-linked dominant 1
Definition A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.
https://www.ncbi.nlm.nih.gov/pubmed/8266101
Xrefs

ICD10CM:G60.0

OMIM:302800

ORDO:101075

Subsets

DO_rare_slim

Synonyms

Charcot-Marie-Tooth neuropathy X-linked dominant 1 [EXACT]

CMT1X [EXACT]

CMTX1 [EXACT]

X-linked Charcot-Marie-Tooth disease type 1 [EXACT]

Parent Relationships

is_a X-linked dominant disease

is_a Charcot-Marie-Tooth disease type X

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