Charcot-Marie-Tooth disease X-linked dominant 6

Term ID

DOID:0110207

Synonyms

• Charcot-Marie-Tooth neuropathy X-linked dominant 6
• CMT6X
• CMTX6
• X-linked Charcot-Marie-Tooth disease type 6

Definition

A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22. https://www.ncbi.nlm.nih.gov/pubmed/23297365

References

• ICD10CM:G60.0
• OMIM:300905
• ORDO:352675

Ontology

Human Disease   ( DOID:0110207 )