Term Name: | Charcot-Marie-Tooth disease axonal type 2N |
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Synonyms: | autosomal dominant axonal Charcot-Marie-Tooth disease type 2N, autosomal dominant Charcot-Marie-Tooth disease type 2N, Charcot-Marie-Tooth neuropathy axonal type 2N, CMT2N |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. |
Ontology: | Human Disease [DOID:0110177] ( DOID:0110177 ) |