Charcot-Marie-Tooth disease dominant intermediate D

Summary

DOID:0110200 - Charcot-Marie-Tooth disease dominant intermediate D

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

Synonyms: autosomal dominant intermediate Charcot-Marie-Tooth disease type D, Charcot-Marie-Tooth neuropathy dominant intermediate D, CMTDID, DI-CMTD

Echinobase 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

MIM:

MIM:607791 - charcot-marie-tooth disease, dominant intermediate d; cmtdid

MIM:607791 - charcot-marie-tooth disease, dominant intermediate d; cmtdid

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 intermediate type (is_a)