Disease

Charcot-Marie-Tooth disease type 2A1

Name: Charcot-Marie-Tooth disease type 2A1
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110154 Charcot-Marie-Tooth disease type 2A1 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1 HMSN IIA1 hereditary motor and sensory neuropathy IIA1 HMSN2A1 CMT2A1 Charcot-Marie-Tooth neuropathy type 2A1 Charcot-Marie-Tooth disease neuronal type 2A1

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36.

Synonyms

autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1
Charcot-Marie-Tooth disease neuronal type 2A1

Cross References

ICD10CM:G60.0
MIM:118210

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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