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Echinobase
Summary Literature (0)
DOID:0110800 - hereditary spastic paraplegia 48

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1.

Synonyms: SPG48, autosomal recessive spastic paraplegia 48, autosomal recessive spastic paraplegia type 48,

Echinobase Genes : ap5z1


OMIM:
MIM:613647 - spastic paraplegia 48, autosomal recessive; spg48

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)