Term Name: Charcot-Marie-Tooth disease type 2A2A
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.
Ontology: Human Disease [DOID:0110155]   ( DOID:0110155 )

Relationships
is a type of: autosomal dominant disease Charcot-Marie-Tooth disease type 2