Term Name: | Charcot-Marie-Tooth disease axonal type 2L |
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Synonyms: | autosomal dominant axonal Charcot-Marie-Tooth disease type 2L, autosomal dominant Charcot-Marie-Tooth disease type 2L, Charcot-Marie-Tooth neuropathy axonal type 2L, CMT2L |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. |
Ontology: | Human Disease [DOID:0110174] ( DOID:0110174 ) |