Disease

Charcot-Marie-Tooth disease type 2R

Name: Charcot-Marie-Tooth disease type 2R
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110161 Charcot-Marie-Tooth disease type 2R A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. CMT2R autosomal recessive axonal Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth neuropathy type 2R

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.

Synonyms

autosomal recessive axonal Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth neuropathy type 2R

Cross References

ICD10CM:G60.0
MIM:615490

Parent Terms

autosomal recessive disease
Charcot-Marie-Tooth disease type 2

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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