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Echinobase
Summary Literature (0)
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, SPG50, autosomal recessive spastic paraplegia 50, spastic quadriplegic cerebral palsy 3,

Echinobase Genes : ap4m1


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

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)