Charcot-Marie-Tooth disease dominant intermediate C

Term ID

DOID:0110199

Synonyms

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

Definition

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. https://www.ncbi.nlm.nih.gov/pubmed/16429158

References

• ICD10CM:G60.0
• MESH:C564257
• OMIM:608323
• ORDO:100045

Ontology

Human Disease   ( DOID:0110199 )