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Charcot-Marie-Tooth disease type 1E
Summary
- Synonym
-
- CMT1E
- Charcot-Marie-Tooth disease and deafness
- Charcot-Marie-Tooth disease demyelinating type 1E
- Charcot-Marie-Tooth disease-deafness
- autosomal dominant Charcot-Marie-Tooth neuropathy and deafness
- Definition
- A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22).
- Super Class
- Charcot-Marie-Tooth disease type 1 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110153
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
