hereditary spastic paraplegia 82

Summary

DOID:0112343 - hereditary spastic paraplegia 82

Disease Ontology Definition:A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3.

Synonyms: spastic paraplegia 82 autosomal recessive, SPG82

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

MIM:

MIM:618770 - SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82

MIM:618770 - SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82

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)