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Summary Literature (0)
DOID:0110183 - Charcot-Marie-Tooth disease type 4C

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene.

Synonyms: CMT4C, Charcot-Marie-Tooth neuropathy type 4C, autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C,

Echinobase Genes :

MIM:601596 - charcot-marie-tooth disease, type 4c; cmt4c

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 4 (is_a)