Term Name: Charcot-Marie-Tooth disease axonal type 2O
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 )

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