Charcot-Marie-Tooth disease axonal type 2V

Term ID

DOID:0110178

Synonyms

• autosomal dominant axonal Charcot-Marie-Tooth disease type 2V
• autosomal dominant Charcot-Marie-Tooth disease type 2V
• Charcot-Marie-Tooth neuropathy type 2V
• CMT2V

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21. https://www.ncbi.nlm.nih.gov/pubmed/25818867

References

• OMIM:616491
• ORDO:447964

Ontology

Human Disease   ( DOID:0110178 )