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DOID:0060491 - SPOAN syndrome
Disease Ontology Definition:A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy. It has material basis in homozygous mutation in the KLC2 gene on chromosome 11q13.2.
Synonyms: spastic paraplegia, optic atropy, and neuropathy, spastic paraplegia, optic atropy, and neuropathy syndrome,
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
neurodegenerative disease (is_a)