hereditary spastic paraplegia 2

Summary

DOID:0110773 - hereditary spastic paraplegia 2

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2.

Synonyms: spastic paraplegia type 2, SPG2, X-linked spastic paraplegia 2

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

: plp1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010733 - hereditary spastic paraplegia 2

MONDO:0010733 - hereditary spastic paraplegia 2

MIM:

MIM:312920 - SPASTIC PARAPLEGIA 2, X-LINKED; SPG2

MIM:312920 - SPASTIC PARAPLEGIA 2, X-LINKED; SPG2

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

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

Parent(s): hereditary spastic paraplegia (is_a), X-linked recessive disease (is_a)