Term Name: | Charcot-Marie-Tooth disease dominant intermediate C |
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Synonyms: | autosomal dominant intermediate Charcot-Marie-Tooth disease type C, Charcot-Marie-Tooth neuropathy dominant intermediate C, CMTDIC, DI-CMTC |
Definition: | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. |
Ontology: | Human Disease [DOID:0110199] ( DOID:0110199 ) |