Summary Literature (0)

DOID:0110152 - Charcot-Marie-Tooth disease type 1B

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).

Synonyms: autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B , Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy, Charcot-Marie-Tooth neuropathy type 1B, CMT1B, hereditary motor and sensory neuropathy IB, HMSN IB, HMSN1B, peroneal muscular atrophy, autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B

Echinobase Genes :


MIM:

MIM:118200 - charcot-marie-tooth disease, demyelinating, type 1b; cmt1b

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

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