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Charcot-Marie-Tooth Disease

Disease ID: disease_node_2018

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DbxrefGARD:3976, MESH:D002607, MESH:D009477, ORDO:970, SNOMEDCT_US_2023_03_01:30508001, UMLS_CUI:C0020072, UMLS_CUI:C0270914
SubclassofDOID_0050548
Data SourceDOID, MESH
SynonymsHSAN2, hereditary sensory and autonomic neuropathy type II
Mesh IdD002607
Mesh LabelCharcot-Marie-Tooth Disease
Mesh SubclassofD015417
Doid Labelhereditary sensory and autonomic neuropathy type 2
Doid DescriptionA hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood.
Disease Node Iddisease_node_2018
Doid IdDOID_0070161
LabelCharcot-Marie-Tooth Disease