Charcot-Marie-Tooth disease type 2A1

Term ID

DOID:0110154

Synonyms

• autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1
• Charcot-Marie-Tooth disease neuronal type 2A1
• Charcot-Marie-Tooth neuropathy type 2A1
• CMT2A1
• hereditary motor and sensory neuropathy IIA1
• HMSN IIA1
• HMSN2A1

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/11389829

References

• ICD10CM:G60.0
• OMIM:118210
• ORDO:99946

Ontology

Human Disease   ( DOID:0110154 )