Term Name: Charcot-Marie-Tooth disease axonal type 2H
Synonyms: AR-CMT2C, autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features, autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features, Autosomal recessive axonal CMT4C2, Axonal Charcot-Marie-Tooth disease with pyramidal involvement, Charcot-Marie-Tooth disease type 2H, CMT2H
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23.
Ontology: Human Disease [DOID:0110166]   ( DOID:0110166 )

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