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Charcot-Marie-Tooth disease dominant intermediate E (DOID:0110205)
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Synonyms: autosomal dominant intermediate Charcot-Marie-Tooth disease type E; Charcot-Marie-Tooth disease-nephropathy syndrome; Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis; CMTDIE
Alt IDs: OMIM:614455, ICD10CM:G60.0, ORDO:93114
Definition: A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32.

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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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11/12/2024
MGI 6.24 		The Jackson Laboratory