Term Name: | Charcot-Marie-Tooth disease axonal type 2F |
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Synonyms: | autosomal dominant Charcot-Marie-Tooth disease type 2F, Charcot-Marie-Tooth neuronal type 2F, Charcot-Marie-Tooth neuropathy type 2F, CMT2F |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). |
Ontology: | Human Disease [DOID:0110163] ( DOID:0110163 ) |