Charcot-Marie-Tooth disease axonal type 2U

Term ID

DOID:0110173

Synonyms

• autosomal dominant axonal Charcot-Marie-Tooth disease type 2U
• autosomal dominant Charcot-Marie-Tooth disease type 2U
• Charcot-Marie-Tooth neuropathy type 2U
• CMT2U

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/23729695

References

• ICD10CM:G60.0
• OMIM:616280
• ORDO:397735

Ontology

Human Disease   ( DOID:0110173 )