hereditary spastic paraplegia 52

Summary

DOID:0110804 - hereditary spastic paraplegia 52

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12.

Synonyms: autosomal recessive spastic paraplegia 52, CPSQ6, spastic quadriplegic cerebral palsy 6, SPG52

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

: ap4s1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013552 - hereditary spastic paraplegia 52

MONDO:0013552 - hereditary spastic paraplegia 52

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)