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Hereditary Spastic Paraplegia 83

Disease ID: disease_node_16620

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DbxrefMIM:619027
SubclassofDOID_2476, DOID_0050737
Data SourceDOID
SynonymsSPG83, spastic paraplegia 83 autosomal recessive
Doid Labelhereditary spastic paraplegia 83
Doid DescriptionA hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_16620
Doid IdDOID_0112346
LabelHereditary Spastic Paraplegia 83