Preferred Label : Charcot-Marie-Tooth Disease Type 2EE;
NCIt synonyms : CMT2EE;
NCIt definition : Charcot-Marie-Tooth disease inherited in an autosomal recessive pattern caused by
mutation(s) in the MPV17 gene, encoding mitochondrial inner membrane protein Mpv17.;
Origin ID : C212863;
Has associated anatomic sites
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