Summary Literature (0)

DOID:0110770 - hereditary spastic paraplegia 17

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.

Synonyms: distal hereditary motor neuropathy type 5B, spastic paraplegia with amyotrophy of hands and feet, autosomal dominant spastic paraplegia 17, autosomal dominant spastic paraplegia type 17, dHMN5B, Silver spastic paraplegia syndrome, Silver syndrome, spastic paraplegia-amyotrophy of hands and feet, SPG17

Xenbase Genes : bscl2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010043 - hereditary spastic paraplegia 17

MIM:

MIM:270685 - SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT; SPG17

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view