Charcot-Marie-Tooth disease type 1B

Summary

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, HMSN1B, HMSN IB, peroneal muscular atrophy

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

: mpz

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007307 - Charcot-Marie-Tooth disease type 1B

MONDO:0007307 - Charcot-Marie-Tooth disease type 1B

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

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

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