FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term autosomal dominant distal hereditary motor neuronopathy 13 ID (Ontology) DOID:0081401 (Human Disease)
Definition An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.
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 autosomal dominant distal hereditary motor neuronopathy 13       1
 for disease ribbon | autosomal dominant distal hereditary motor neuronopathy 13       1
 model of | autosomal dominant distal hereditary motor neuronopathy 13       1
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autosomal dominant disease__
spinal muscular atrophy_____|
                            autosomal dominant distal hereditary motor neuronopathy
                             |__autosomal dominant distal hereditary motor neuronopathy 13  1 rec.
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MIM:619112