Term Name: | Charcot-Marie-Tooth disease dominant intermediate E |
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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 |
Definition: | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. |
Ontology: | Human Disease [DOID:0110205] ( DOID:0110205 ) |