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

Echinobase Genes :


OMIM:

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

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

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