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| Term | Charcot-Marie-Tooth disease type 2I | ID (Ontology) | DOID:0110158 (Human Disease) |
| 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. | ||
| Also Known As | "Charcot-Marie-Tooth neuropathy type 2I" ; "CMT2I" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__________ Charcot-Marie-Tooth disease | |__Charcot-Marie-Tooth disease type 2__| Charcot-Marie-Tooth disease type 2I |
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| Is a |
Charcot-Marie-Tooth disease type 2 autosomal dominant disease |
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External Crossreferences & Linkouts
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ICD10CM:G60.0 MESH:C535416 MIM:607677 ORDO:99942 |
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