Term Name: Charcot-Marie-Tooth disease axonal type 2N
Synonyms: autosomal dominant axonal Charcot-Marie-Tooth disease type 2N, autosomal dominant Charcot-Marie-Tooth disease type 2N, Charcot-Marie-Tooth neuropathy axonal type 2N, CMT2N
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21.
Ontology: Human Disease [DOID:0110177]   ( DOID:0110177 )

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