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Disease Ontology Browser
hereditary spastic paraplegia 79B (DOID:0112344)
Alliance: disease page
Synonyms: autosomal recessive spastic paraplegia 79B; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome; spastic paraplegia 79 autosomal recessive; SPG79B
Alt IDs: OMIM:615491, ORDO:352654
Definition: A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.

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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12/10/2024
MGI 6.24 		The Jackson Laboratory