Disease

Charcot-Marie-Tooth disease type 2B1

Name: Charcot-Marie-Tooth disease type 2B1
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110156 Charcot-Marie-Tooth disease type 2B1 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1 CMT2B1 Charcot-Marie-Tooth neuropathy type 2B1 autosomal recessive axonal CMT4C1 autosomal recessive Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease neuronal type 2B1

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.

Synonyms

autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1
autosomal recessive axonal CMT4C1

Cross References

ICD10CM:G60.0
MESH:C537990

Parent Terms

autosomal recessive 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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