Charcot-Marie-Tooth disease type 2A2A

Term ID

DOID:0110155

Synonyms

• autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2
• Charcot-Marie-Tooth neuronal type 2A2
• Charcot-Marie-Tooth neuropathy type 2A2
• CMT2A2A
• hereditary motor and sensory neuropathy IIA2
• HMSN IIA2
• HMSN2A2

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. (2)

References

• ICD10CM:G60.0
• MIM:609260
• ORDO:99947

Ontology

Human Disease   ( DOID:0110155 )