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DOID:0110204 - Charcot-Marie-Tooth disease recessive intermediate B
Disease Ontology Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.
Synonyms: CMTRIB, Charcot-Marie-Tooth neuropathy recessive intermediate B, RI-CMTB, autosomal recessive intermediate Charcot-Marie-Tooth disease type B,
Xenbase Genes : kars1
MONDO:0013338 - Charcot-Marie-Tooth disease recessive intermediate B |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee