hereditary spastic paraplegia 51

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Echinobase

Summary

Literature (0)

DOID:0110803 - hereditary spastic paraplegia 51

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21.

Synonyms: autosomal dominant spastic paraplegia 51, CPSQ4, spastic quadriplegic cerebral palsy 4, SPG51

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

: ap4e1

MIM:

MIM:613744 - spastic paraplegia 51, autosomal recessive; spg51

MIM:613744 - spastic paraplegia 51, autosomal recessive; spg51

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)