hereditary spastic paraplegia 46

Summary

DOID:0110798 - hereditary spastic paraplegia 46

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p.

Synonyms: autosomal recessive spastic paraplegia 46, autosomal recessive spastic paraplegia type 46, SPG46

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gba2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013737 - hereditary spastic paraplegia 46

MONDO:0013737 - hereditary spastic paraplegia 46

MIM:

MIM:614409 - SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE; SPG46

MIM:614409 - SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE; SPG46

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

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

Parent(s): autosomal recessive disease (is_a), hereditary spastic paraplegia (is_a)