hereditary spastic paraplegia 48

Summary

DOID:0110800 - hereditary spastic paraplegia 48

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1.

Synonyms: autosomal recessive spastic paraplegia type 48, SPG48, autosomal recessive spastic paraplegia 48

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

: ap5z1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013342 - hereditary spastic paraplegia 48

MONDO:0013342 - hereditary spastic paraplegia 48

MIM:

MIM:613647 - SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48

MIM:613647 - SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48

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

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

Parent(s): autosomal recessive disease (is_a), hereditary spastic paraplegia (is_a)