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Autosomal Domit Distal Hereditary Motor Neuronopathy 12

Disease ID: disease_node_18008

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DbxrefMIM:614751
SubclassofDOID_0111198
Data SourceDOID
Synonymsdistal HMN VB, distal hereditary motor neuronopathy type 5B, distal spinal muscular atrophy type VB
Doid Labelautosomal domit distal hereditary motor neuronopathy 12
Doid DescriptionAn autosomal domit distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2.
Disease Node Iddisease_node_18008
Doid IdDOID_0111205
LabelAutosomal Domit Distal Hereditary Motor Neuronopathy 12