Disease

Charcot-Marie-Tooth disease axonal type 2C

Name: Charcot-Marie-Tooth disease axonal type 2C
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. HMSN2C hereditary motor and sensory neuropathy type IIc autosomal cominant axonal Charcot-Marie-Tooth disease type 2C autosomal dominant Charcot-Marie-Tooth disease type 2C Charcot-Marie-Tooth neuropathy type 2C CMT2C

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.

Synonyms

autosomal cominant axonal Charcot-Marie-Tooth disease type 2C
autosomal dominant Charcot-Marie-Tooth disease type 2C

Cross References

ICD10CM:G60.0
MIM:606071

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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