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Charcot-Marie-Tooth disease recessive intermediate B (DOID:0110204)
Alliance: disease page
Synonyms: autosomal recessive intermediate Charcot-Marie-Tooth disease type B; Charcot-Marie-Tooth neuropathy recessive intermediate B; CMTRIB; RI-CMTB
Alt IDs: OMIM:613641, ICD10CM:G60.0, ORDO:254334
Definition: A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory