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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

In OMIM:
OMIM:601596 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C

In Mondo Disease Ontology:
MONDO:0011113 - Charcot-Marie-Tooth disease type 4C

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : sh3tc2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Charcot-Marie-Tooth disease type 4 (is_a)