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Autosomal Recessive Distal Hereditary Motor Neuronopathy 6

Disease ID: disease_node_18021

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DbxrefMIM:620011
SubclassofDOID_0111197
Data SourceDOID
Doid Labelautosomal recessive distal hereditary motor neuronopathy 6
Doid DescriptionAn autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness in early infancy and that has_material_basis_in homozygous mutation in the REEP1 gene on chromosome 2p11.
Existence Starts DuringHP_0003577
Disease Node Iddisease_node_18021
Doid IdDOID_0081425
LabelAutosomal Recessive Distal Hereditary Motor Neuronopathy 6