Term Name: | Charcot-Marie-Tooth disease type 1B |
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Synonyms: | autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B, Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy, Charcot-Marie-Tooth neuropathy type 1B, CMT1B, hereditary motor and sensory neuropathy IB, HMSN IB, HMSN1B, peroneal muscular atrophy |
Definition: | A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). |
Ontology: | Human Disease [DOID:0110152] ( DOID:0110152 ) |