hereditary spastic paraplegia 85

Summary

DOID:0112345 - hereditary spastic paraplegia 85

Disease Ontology Definition:A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in RNF170 on chromosome 8p11.21.

Synonyms: SPG85, spastic paraplegia 85 autosomal recessive,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

OMIM:

OMIM:619686 - SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85

OMIM:619686 - SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85

Other Model Organisms: AGR, 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)