hereditary spastic paraplegia 47

Summary

DOID:0110799 - hereditary spastic paraplegia 47

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13.

Synonyms: autosomal recessive spastic paraplegia 47, CPSQ5, spastic quadriplegic cerebral palsy 5, SPG47

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

: ap4b1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013551 - hereditary spastic paraplegia 47

MONDO:0013551 - hereditary spastic paraplegia 47

MIM:

MIM:614066 - SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

MIM:614066 - SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

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)