Term Name: Charcot-Marie-Tooth disease type 2B
Synonyms: autosomal dominant Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth neuropathy type 2B, CMT2B, hereditary motor and sensory nueropathy IIB, HMSN IIB, HMSN2B
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21.
Ontology: Human Disease [DOID:0110159]   ( DOID:0110159 )

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