Term Name: | Charcot-Marie-Tooth disease type 2B |
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Synonyms: | autosomal dominant Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth neuropathy type 2B, CMT2B, hereditary motor and sensory nueropathy IIB, HMSN IIB, HMSN2B |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. |
Ontology: | Human Disease [DOID:0110159] ( DOID:0110159 ) |