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Charcot-Marie-Tooth disease type 2J
Summary
- Synonym
-
- CMT2J
- Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities
- Charcot-Marie-Tooth neuropathy type 2J
- 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.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110157
- Mondo Disease Ontology
- ORDO
- OMIM
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