Term Name: | Charcot-Marie-Tooth disease recessive intermediate B |
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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 ) |