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Disease Ontology Browser
hereditary spastic paraplegia 79 (DOID:0112344)
Alliance: disease page
Synonyms: 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome'; 'spastic paraplegia 79 autosomal recessive'; 'SPG79'
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 UCHL1 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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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory