Charcot-Marie-Tooth disease dominant intermediate C

Summary

DOID:0110199 - Charcot-Marie-Tooth disease dominant intermediate C

Disease Ontology Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35.

Synonyms: CMTDIC, Charcot-Marie-Tooth neuropathy dominant intermediate C, DI-CMTC, autosomal dominant intermediate Charcot-Marie-Tooth disease type C,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: yars1

OMIM:

MIM:608323 - charcot-marie-tooth disease, dominant intermediate c; cmtdic

MIM:608323 - charcot-marie-tooth disease, dominant intermediate c; cmtdic

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

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

Parent(s): Charcot-Marie-Tooth disease intermediate type (is_a)