|
DOID:0070460 - hereditary spastic paraplegia 90B
Disease Ontology Definition:A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1.
Synonyms: SPG90B, autosomal recessive spastic paraplegia 90B,
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee