Term Name: | Charcot-Marie-Tooth disease axonal type 2S |
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Synonyms: | autosomal recessive axonal Charcot-Marie-Tooth type 2S, Charcot-Marie-Tooth disease type 2S, Charcot-Marie-Tooth neuropathy type 2S, CMT2S |
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. |
Ontology: | Human Disease [DOID:0110171] ( DOID:0110171 ) |