Term Name: | Charcot-Marie-Tooth disease axonal type 2U |
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Synonyms: | autosomal dominant axonal Charcot-Marie-Tooth disease type 2U, autosomal dominant Charcot-Marie-Tooth disease type 2U, Charcot-Marie-Tooth neuropathy type 2U, CMT2U |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. |
Ontology: | Human Disease [DOID:0110173] ( DOID:0110173 ) |