Term Name: | Charcot-Marie-Tooth disease type 2I |
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Synonyms: | Charcot-Marie-Tooth neuropathy type 2I, CMT2I |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. |
Ontology: | Human Disease [DOID:0110158] ( DOID:0110158 ) |