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Metadata
ID DOID:0110151
Name Charcot-Marie-Tooth disease type 1C
Definition A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13.
https://www.ncbi.nlm.nih.gov/pubmed/12525712
Xrefs

ICD10CM:G60.0

MESH:C537984

MIM:601098

ORDO:101083

Subsets

DO_rare_slim

Synonyms

Charcot-Marie-Tooth neuropathy type 1C [EXACT]

CMT slow nerve conduction type C [EXACT]

CMT1C [EXACT]

HMSN IC [EXACT]

HMSN1C [EXACT]

neuropathy hereditary motor and sensory type 1C [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Charcot-Marie-Tooth disease type 1

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