Charcot-Marie-Tooth disease axonal type 2N

Term ID

DOID:0110177

Synonyms

• autosomal dominant axonal Charcot-Marie-Tooth disease type 2N
• autosomal dominant Charcot-Marie-Tooth disease type 2N
• Charcot-Marie-Tooth neuropathy axonal type 2N
• CMT2N

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. https://www.ncbi.nlm.nih.gov/pubmed/20045102

References

• ICD10CM:G60.0
• OMIM:613287
• ORDO:228174

Ontology

Human Disease   ( DOID:0110177 )