hereditary spastic paraplegia 18

Summary

DOID:0110771 - hereditary spastic paraplegia 18

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11.

Synonyms: autosomal recessive spastic paraplegia 18, autosomal recessive spastic paraplegia type 18, IDMDC, intellectual disability, motor dysfunction and joint contractures, SPG18

Echinobase 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

: LOC592559

MIM:

MIM:611225 - spastic paraplegia 18, autosomal recessive; spg18

MIM:611225 - spastic paraplegia 18, autosomal recessive; spg18

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)