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Disease Ontology Browser
hereditary spastic paraplegia 78 (DOID:0112348)
Alliance: disease page
Synonyms: spastic paraplegia 78 autosomal recessive; SPG78
Alt IDs: OMIM:617225, ORDO:513436
Definition: A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13.


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
11/12/2024
MGI 6.24
The Jackson Laboratory