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Charcot-Marie-Tooth disease type 2A1
Summary
- Synonym
-
- CMT2A1
- Charcot-Marie-Tooth disease neuronal type 2A1
- Charcot-Marie-Tooth neuropathy type 2A1
- HMSN IIA1
- HMSN2A1
- autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1
- hereditary motor and sensory neuropathy IIA1
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110154
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
