Charcot-Marie-Tooth disease type 2Y

Term ID

DOID:0110168

Synonyms

• autosomal dominant axonal Charcot-Marie-Tooth type 2Y
• autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
• Charcot-Marie-Tooth neuropathy type 2Y
• CMT2 due to VCP mutation
• CMT2Y

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13. https://www.ncbi.nlm.nih.gov/pubmed/25125609

References

• ICD10CM:G60.0
• OMIM:616687
• ORDO:435387

Ontology

Human Disease   ( DOID:0110168 )