Term Name: | Charcot-Marie-Tooth disease type 2DD |
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Synonyms: | ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2, ATP1A1-related CMT2, Charcot-Marie-Tooth disease, axonal, type 2DD, Charcot-Marie-Tooth neuropathy, type 2DD, CMT2DD |
Definition: | A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1. |
Ontology: | Human Disease [DOID:0111558] ( DOID:0111558 ) |