Term Name: | Charcot-Marie-Tooth disease axonal type 2H |
---|---|
Synonyms: | AR-CMT2C, autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features, autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features, Autosomal recessive axonal CMT4C2, Axonal Charcot-Marie-Tooth disease with pyramidal involvement, Charcot-Marie-Tooth disease type 2H, CMT2H |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23. |
Ontology: | Human Disease [DOID:0110166] ( DOID:0110166 ) |