RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
autosomal dominant distal hereditary motor neuronopathy 2
An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. (DO)
Synonyms:
exact_synonym:
Charcot-Marie-Tooth Disease, Spinal, IIA; DHMN2A; DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2; HMN II; HMN IIA; HMN2; HMN2A; HMND2; autosomal dominant adult spinal muscular atrophy IIA; distal hereditary motor neuronopathy type 2; distal hereditary motor neuronopathy type 2A; distal hereditary motor neuronopathy, autosomal dominant 2; distal hereditary motor neuronopathy, type IIA; distal hereditary motor neuropathy type II; distal hereditary motor neuropathy type IIA; distal spinal muscular atrophy, adult autosomal dominant, IIA