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Echinobase
Summary Literature (0)
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: CPSQ5, SPG47, autosomal recessive spastic paraplegia 47, spastic quadriplegic cerebral palsy 5,

Echinobase Genes : ap4b1


OMIM:
MIM:614066 - spastic paraplegia 47, autosomal recessive; spg47

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): hereditary spastic paraplegia (is_a)