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Disease Ontology Browser
hereditary spastic paraplegia 83 (DOID:0112346)
Alliance: disease page
Synonyms: spastic paraplegia 83 autosomal recessive; SPG83
Alt IDs: OMIM:619027
Definition: A 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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory