Charcot-Marie-Tooth disease type 4C

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: sh3tc2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011113 - Charcot-Marie-Tooth disease type 4C

MONDO:0011113 - Charcot-Marie-Tooth disease type 4C

MIM:

MIM:601596 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4C; CMT4C

MIM:601596 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4C; CMT4C

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), Charcot-Marie-Tooth disease type 4 (is_a)