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| Term | Charcot-Marie-Tooth disease type 2J | ID (Ontology) | DOID:0110157 (Human Disease) |
| Definition | A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. | ||
| Also Known As | "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities" ; "Charcot-Marie-Tooth neuropathy type 2J" ; "CMT2J" | ||
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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 2J |
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Charcot-Marie-Tooth disease type 2 autosomal dominant disease |
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ICD10CM:G60.0 MIM:607736 ORDO:99943 |
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