Disease

Charcot-Marie-Tooth disease axonal type 2N

Name: Charcot-Marie-Tooth disease axonal type 2N
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. Charcot-Marie-Tooth neuropathy axonal type 2N autosomal dominant Charcot-Marie-Tooth disease type 2N CMT2N autosomal dominant axonal Charcot-Marie-Tooth disease type 2N

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21.

Synonyms

autosomal dominant axonal Charcot-Marie-Tooth disease type 2N
autosomal dominant Charcot-Marie-Tooth disease type 2N

Cross References

ICD10CM:G60.0
MIM:613287

Parent Terms

autosomal dominant 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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