Charcot-Marie-Tooth disease type 1B

Term ID

DOID:0110152

Synonyms

• autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B
• Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy
• Charcot-Marie-Tooth neuropathy type 1B
• CMT1B
• hereditary motor and sensory neuropathy IB
• HMSN IB
• HMSN1B
• peroneal muscular atrophy

Definition

A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). https://www.ncbi.nlm.nih.gov/pubmed/7693129

References

• ICD10CM:G60.0
• OMIM:118200
• ORDO:101082

Ontology

Human Disease   ( DOID:0110152 )