Disease

Charcot-Marie-Tooth disease type 1A

Name: Charcot-Marie-Tooth disease type 1A
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110148 Charcot-Marie-Tooth disease type 1A A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). Charcot-Marie-Tooth neuropathy type 1A CMT1A hereditary motor and sensory neuropathy 1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A HMSN1A microduplication 17p12

Definition

A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).

Synonyms

autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A
Charcot-Marie-Tooth neuropathy type 1A

Cross References

GARD:1245
ICD10CM:G60.0

Parent Terms

autosomal dominant disease
Charcot-Marie-Tooth disease type 1

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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