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DOID:0112348 - hereditary spastic paraplegia 78
Disease Ontology 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.
Synonyms: SPG78, spastic paraplegia 78 autosomal recessive,
Xenbase Genes : atp13a2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee