Term Name: | Charcot-Marie-Tooth disease axonal type 2V |
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Synonyms: | autosomal dominant axonal Charcot-Marie-Tooth disease type 2V, autosomal dominant Charcot-Marie-Tooth disease type 2V, Charcot-Marie-Tooth neuropathy type 2V, CMT2V |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21. |
Ontology: | Human Disease [DOID:0110178] ( DOID:0110178 ) |