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Autosomal Domit Distal Hereditary Motor Neuronopathy 11

Disease ID: disease_node_18012

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DbxrefMIM:620528
SubclassofDOID_0111198
Data SourceDOID
Doid Labelautosomal domit distal hereditary motor neuronopathy 11
Doid DescriptionAn autosomal domit distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
Disease Node Iddisease_node_18012
Doid IdDOID_0081400
LabelAutosomal Domit Distal Hereditary Motor Neuronopathy 11