Term Name: Charcot-Marie-Tooth disease recessive intermediate B
Synonyms: autosomal recessive intermediate Charcot-Marie-Tooth disease type B, Charcot-Marie-Tooth neuropathy recessive intermediate B, CMTRIB, RI-CMTB
Definition: A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.
Ontology: Human Disease [DOID:0110204]   ( DOID:0110204 )

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