Term Name: | Charcot-Marie-Tooth disease type 2D |
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Synonyms: | autosomal dominant Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease neuronal type 2D, Charcot-Marie-Tooth neuropathy type 2D, CMT2D |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene. |
Ontology: | Human Disease [DOID:0110164] ( DOID:0110164 ) |