Term Name: Charcot-Marie-Tooth disease type 2DD
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 )

Relationships
is a type of: autosomal dominant disease Charcot-Marie-Tooth disease type 2