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Autosomal Recessive Distal Hereditary Motor Neuronopathy 7

Disease ID: disease_node_18020

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DbxrefMIM:619216
SubclassofDOID_0111197
Data SourceDOID
Doid Labelautosomal recessive distal hereditary motor neuronopathy 7
Doid DescriptionAn autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36.
Disease Node Iddisease_node_18020
Doid IdDOID_0081426
LabelAutosomal Recessive Distal Hereditary Motor Neuronopathy 7