hereditary spastic paraplegia 78

Summary

DOID:0112348 - hereditary spastic paraplegia 78

Disease Ontology Definition:A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13.

Synonyms: spastic paraplegia 78 autosomal recessive, SPG78

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

: atp13a2

MIM:

MIM:617225 - SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78

MIM:617225 - SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78

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)