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Autosomal Domit Distal Hereditary Motor Neuronopathy 3

Disease ID: disease_node_18007

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DbxrefMIM:608634
SubclassofDOID_0111198
Data SourceDOID
SynonymsHMN IIB, HMN2B, distal hereditary motor neuronopathy type 2B, distal hereditary motor neuropathy type IIB
Doid Labelautosomal domit distal hereditary motor neuronopathy 3
Doid DescriptionAn autosomal domit distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23.
Disease Node Iddisease_node_18007
Doid IdDOID_0111207
LabelAutosomal Domit Distal Hereditary Motor Neuronopathy 3