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.
This term is obsolete.
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Definition:
A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23. (DO)
Synonyms:
exact_synonym:
Charcot-Marie-Tooth Disease, Spinal, IIA; DHMN2A; HMN IIA; HMN2A; HMND2; autosomal dominant adult spinal muscular atrophy IIA; distal hereditary motor neuronopathy, autosomal dominant 2; distal hereditary motor neuronopathy, type IIA; distal hereditary motor neuropathy type IIA; distal spinal muscular atrophy, adult autosomal dominant, IIA