Term Name: Charcot-Marie-Tooth disease type 4K
Synonyms: autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K, autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K, CMT4K, SURF1-related Charcot-Marie-Tooth disease type 4, SURF1-related CMT4, SURF1-related severe demyelinating Charcot-Marie-Tooth disease
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.
Ontology: Human Disease [DOID:0110187]   ( DOID:0110187 )

Relationships
is a type of: autosomal recessive disease Charcot-Marie-Tooth disease type 4