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Charcot-Marie-Tooth Disease Axonal Type 2Cc

Disease ID: disease_node_18842

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DbxrefMIM:616924
SubclassofDOID_0050736, DOID_0050539
Data SourceDOID
SynonymsCMT2CC, Charcot-Marie-Tooth neuropathy type 2CC
Doid LabelCharcot-Marie-Tooth disease axonal type 2CC
Doid DescriptionA Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_18842
Doid IdDOID_0110180
LabelCharcot-Marie-Tooth Disease Axonal Type 2Cc