Charcot-Marie-Tooth disease type 1E

Term ID

DOID:0110153

Synonyms

• autosomal dominant Charcot-Marie-Tooth neuropathy and deafness
• Charcot-Marie-Tooth disease and deafness
• Charcot-Marie-Tooth disease demyelinating type 1E
• Charcot-Marie-Tooth disease-deafness
• CMT1E

Definition

A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22). https://www.ncbi.nlm.nih.gov/pubmed/10330345

References

• GARD:9190
• ICD10CM:G60.0
• OMIM:118300
• ORDO:90658

Ontology

Human Disease   ( DOID:0110153 )