DISEASES

Disease-gene associations mined from literature

Human genes for Charcot-Marie-Tooth disease recessive intermediate B

Charcot-Marie-Tooth disease recessive intermediate B [DOID:0110204]

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.

Synonyms:  Charcot-Marie-Tooth disease recessive intermediate B,  CharcotMarieTooth disease recessive intermediate B,  Charcot-Marie-Tooth disease recessive intermediate Bs,  DOID:0110204,  autosomal recessive intermediate Charcot-Marie-Tooth disease type B ...