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Charcot-Marie-Tooth disease type 1D
Summary
- Synonym
-
- CMT1D
- Charcot-Marie-Tooth neuropathy type 1D
- HMSN ID
- HMSN1D
- hereditary motor and sensory neuropathy 1D
- Definition
- A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2).
- Super Class
- Charcot-Marie-Tooth disease type 1 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110150
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
