Term Name: | Charcot-Marie-Tooth disease type 2A1 |
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Synonyms: | autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1, Charcot-Marie-Tooth disease neuronal type 2A1, Charcot-Marie-Tooth neuropathy type 2A1, CMT2A1, hereditary motor and sensory neuropathy IIA1, HMSN IIA1, HMSN2A1 |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. |
Ontology: | Human Disease [DOID:0110154] ( DOID:0110154 ) |