Term Name: | Charcot-Marie-Tooth disease type 1D |
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Synonyms: | Charcot-Marie-Tooth neuropathy type 1D, CMT1D, hereditary motor and sensory neuropathy 1D, HMSN ID, HMSN1D |
Definition: | A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). |
Ontology: | Human Disease [DOID:0110150] ( DOID:0110150 ) |