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

Echinobase 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

MIM:

MIM:612936 - spastic paraplegia 50, autosomal recessive; spg50

MIM:612936 - spastic paraplegia 50, autosomal recessive; spg50

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)