Charcot-Marie-Tooth disease axonal type 2F

Term ID

DOID:0110163

Synonyms

• autosomal dominant Charcot-Marie-Tooth disease type 2F
• Charcot-Marie-Tooth neuronal type 2F
• Charcot-Marie-Tooth neuropathy type 2F
• CMT2F

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). https://www.ncbi.nlm.nih.gov/pubmed/15122254

References

• ICD10CM:G60.0
• OMIM:606595
• ORDO:99940

Ontology

Human Disease   ( DOID:0110163 )