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Disease Ontology Browser
hereditary spastic paraplegia 82 (DOID:0112343)
Alliance: disease page
Synonyms: spastic paraplegia 82 autosomal recessive; SPG82
Alt IDs: OMIM:618770
Definition: A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3.

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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory