hereditary spastic paraplegia 6

Summary

DOID:0110811 - hereditary spastic paraplegia 6

Disease Ontology Definition:A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2.

Synonyms: autosomal dominant familial spastic paraplegia type 3, autosomal dominant spastic paraplegia 6, autosomal dominant spastic paraplegia type 6, FSP3, SPG6

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

: nipa1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010878 - hereditary spastic paraplegia 6

MONDO:0010878 - hereditary spastic paraplegia 6

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

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

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