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Summary Literature (1)
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 , 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

Xenbase Genes : mpz

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007307 - pronephric glomerular basement membrane

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
Parent(s): autosomal dominant disease (is_a), Charcot-Marie-Tooth disease type 1 (is_a)