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Charcot-Marie-Tooth Disease Axonal Type 2V

Disease ID: disease_node_18843

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DbxrefMIM:616491, ORDO:447964
SubclassofDOID_0050736, DOID_0050539
Data SourceDOID
SynonymsCMT2V, Charcot-Marie-Tooth neuropathy type 2V, autosomal dominant Charcot-Marie-Tooth disease type 2V, autosomal dominant axonal Charcot-Marie-Tooth disease type 2V
Doid LabelCharcot-Marie-Tooth disease axonal type 2V
Doid DescriptionA Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_18843
Doid IdDOID_0110178
LabelCharcot-Marie-Tooth Disease Axonal Type 2V