Term Name: | Charcot-Marie-Tooth disease axonal type 2O |
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Synonyms: | autosomal dominant axonal Charcot-Marie-Tooth disease type 2O, autosomal dominant Charcot-Marie-Tooth disease type 2O, Charcot-Marie-Tooth neuropathy axonal type 2O |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. |
Ontology: | Human Disease [DOID:0110175] ( DOID:0110175 ) |