Charcot-Marie-Tooth disease axonal type 2S

Summary

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 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

: ighmbp2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014511 - Charcot-Marie-Tooth disease axonal type 2S

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)