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Summary Literature (0)
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: IDMDC, SPG18, autosomal recessive spastic paraplegia 18, autosomal recessive spastic paraplegia type 18, intellectual disability, motor dysfunction and joint contractures

Xenbase Genes : erlin2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012639 - hereditary spastic paraplegia 18

OMIM:
OMIM:611225 - SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): hereditary spastic paraplegia (is_a)