hereditary spastic paraplegia 50

Summary

DOID:0110802 - hereditary spastic paraplegia 50

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.

Synonyms: AP-4 deficiency syndrome, AP-4-Associated Hereditary Spastic Paraplegia, CPSQ3, SPG50, adaptor protein complex 4 deficiency, autosomal recessive spastic paraplegia 50, spastic quadriplegic cerebral palsy 3,

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

: ap4m1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013048 - hereditary spastic paraplegia 50

MONDO:0013048 - hereditary spastic paraplegia 50

Other Model Organisms: AGR, 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)