Charcot-Marie-Tooth disease type 2I

Summary

DOID:0110158 - Charcot-Marie-Tooth disease type 2I

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.

Synonyms: CMT2I, Charcot-Marie-Tooth neuropathy type 2I,

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:0011889 - Charcot-Marie-Tooth disease type 2I

MONDO:0011889 - Charcot-Marie-Tooth disease type 2I

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 dominant disease (is_a)