Disease

Charcot-Marie-Tooth disease type 2DD

Definition

A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1.

Synonyms

ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
ATP1A1-related CMT2

Cross References

MIM:618036
ORDO:521414

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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