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

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

: yars1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012012 - Charcot-Marie-Tooth disease dominant intermediate C

MONDO:0012012 - Charcot-Marie-Tooth disease dominant intermediate C

MIM:

MIM:608323 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; CMTDIC

MIM:608323 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; CMTDIC

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)