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Charcot-Marie-Tooth disease axonal type 2S
Summary
- Synonym
-
- CMT2S
- Charcot-Marie-Tooth disease type 2S
- Charcot-Marie-Tooth neuropathy type 2S
- autosomal recessive axonal Charcot-Marie-Tooth type 2S
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110171
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
