Disease

Charcot-Marie-Tooth disease X-linked recessive 5

Name: Charcot-Marie-Tooth disease X-linked recessive 5
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. CMT5X X-linked Charcot-Marie-Tooth disease type 5 optic atrophy, polyneuropathy, and deafness Charcot-Marie-Tooth neuropathy X-linked recessive 5 Rosenberg-Chutorian syndrome CMTX5

Definition

A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.

Synonyms

Charcot-Marie-Tooth neuropathy X-linked recessive 5
CMT5X

Cross References

ICD10CM:G60.0
MIM:311070

Parent Terms

Charcot-Marie-Tooth disease type X
X-linked 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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