Charcot-Marie-Tooth disease X-linked dominant 1

Term ID

DOID:0110209

Synonyms

• Charcot-Marie-Tooth neuropathy X-linked dominant 1
• CMT1X
• CMTX1
• X-linked Charcot-Marie-Tooth disease type 1

Definition

A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. https://www.ncbi.nlm.nih.gov/pubmed/8266101

References

• ICD10CM:G60.0
• OMIM:302800
• ORDO:101075

Ontology

Human Disease   ( DOID:0110209 )