Disease

Charcot-Marie-Tooth disease axonal type 2K

Name: Charcot-Marie-Tooth disease axonal type 2K
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. autosomal recessive axonal CMT4C4 autosomal recessive axonal Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth neuropathy axonal type 2K autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K ARCMT2K autosomal recessive Charcot-Marie-Tooth disease with hoarseness

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.

Synonyms

ARCMT2K
autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K

Cross References

ICD10CM:G60.0
MIM:607831

Parent Terms

autosomal dominant disease
autosomal recessive disease

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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