hereditary spastic paraplegia 53

Summary

DOID:0110805 - hereditary spastic paraplegia 53

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22.

Synonyms: autosomal recessive spastic paraplegia 53, autosomal recessive spastic paraplegia type 53, SPG53

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

: vps37a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013962 - hereditary spastic paraplegia 53

MONDO:0013962 - hereditary spastic paraplegia 53

MIM:

MIM:614898 - SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53

MIM:614898 - SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53

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)