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Summary Literature (0)
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 Disease Ontology (on Monarch Initiative):
MONDO:0013338 - Charcot-Marie-Tooth disease recessive intermediate B

OMIM:
OMIM:613641 - CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Charcot-Marie-Tooth disease intermediate type (is_a)