Term Name: | autosomal dominant distal hereditary motor neuronopathy 3 |
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Synonyms: | distal hereditary motor neuronopathy type 2B, distal hereditary motor neuropathy type IIB, HMN IIB, HMN2B |
Definition: | An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23. |
Ontology: | Human Disease [DOID:0111207] ( DOID:0111207 ) |