Term Name: | Charcot-Marie-Tooth disease dominant intermediate D |
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Synonyms: | autosomal dominant intermediate Charcot-Marie-Tooth disease type D, Charcot-Marie-Tooth neuropathy dominant intermediate D, CMTDID, DI-CMTD |
Definition: | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. |
Ontology: | Human Disease [DOID:0110200] ( DOID:0110200 ) |