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Summary Literature (0)
DOID:0110171 - Charcot-Marie-Tooth disease axonal type 2S


Disease Ontology 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.

Synonyms: CMT2S, Charcot-Marie-Tooth disease type 2S, Charcot-Marie-Tooth neuropathy type 2S, autosomal recessive axonal Charcot-Marie-Tooth type 2S,

Xenbase Genes : ighmbp2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014511 - Charcot-Marie-Tooth disease axonal type 2S


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Charcot-Marie-Tooth disease type 2 (is_a), autosomal recessive disease (is_a)