Term Name: Charcot-Marie-Tooth disease type 2A1
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.
Ontology: Human Disease [DOID:0110154]   ( DOID:0110154 )

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