hereditary spastic paraplegia 81

Summary

DOID:0112349 - hereditary spastic paraplegia 81

Disease Ontology Definition:A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3.

Synonyms: SPG81, autosomal recessive complex SPG due to Kennedy pathway dysfunction, autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction, spastic paraplegia 81 autosomal recessive,

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

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)