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Charcot-Marie-Tooth Disease Axonal Type 2X

Disease ID: disease_node_18845

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DbxrefMIM:616668, ORDO:466775
SubclassofDOID_0050737, DOID_0050539
Data SourceDOID
SynonymsCharcot-Marie-Tooth neuropathy type 2X, autosomal recessive axonal Charcot-Marie-Tooth disease type 2X
Doid LabelCharcot-Marie-Tooth disease axonal type 2X
Doid DescriptionA Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_18845
Doid IdDOID_0110176
LabelCharcot-Marie-Tooth Disease Axonal Type 2X