hereditary spastic paraplegia 45

Summary

DOID:0110797 - hereditary spastic paraplegia 45

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24.

Synonyms: autosomal recessive spastic paraplegia 45, autosomal recessive spastic paraplegia type 45, autosomal recessive spastic paraplegia type 65, SPG45, SPG65

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

: nt5c2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013165 - epiglottic vallecula

MONDO:0013165 - epiglottic vallecula

MIM:

MIM:613162 - SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45

MIM:613162 - SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45

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)