Charcot-Marie-Tooth disease axonal type 2Q

Term ID

DOID:0110170

Synonyms

• autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
• autosomal dominant Charcot-Marie-Tooth disease type 2Q
• Charcot-Marie-Tooth neuropathy type 2Q
• CMT2Q

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. https://www.ncbi.nlm.nih.gov/pubmed/23141294

References

• ICD10CM:G60.0
• OMIM:615025
• ORDO:329258

Ontology

Human Disease   ( DOID:0110170 )