Disease

Charcot-Marie-Tooth disease axonal type 2V

Name: Charcot-Marie-Tooth disease axonal type 2V
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21. CMT2V autosomal dominant axonal Charcot-Marie-Tooth disease type 2V Charcot-Marie-Tooth neuropathy type 2V autosomal dominant Charcot-Marie-Tooth disease type 2V

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.

Synonyms

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

Cross References

MIM:616491
ORDO:447964

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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