Term Name: Charcot-Marie-Tooth disease axonal type 2K
Synonyms: ARCMT2K, autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K, autosomal recessive axonal Charcot-Marie-Tooth disease type 2K, autosomal recessive axonal CMT4C4, autosomal recessive Charcot-Marie-Tooth disease with hoarseness, Charcot-Marie-Tooth neuropathy axonal type 2K
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.
Ontology: Human Disease [DOID:0110167]   ( DOID:0110167 )

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