hereditary spastic paraplegia 79B

Summary

DOID:0112344 - hereditary spastic paraplegia 79B

Disease Ontology Definition:A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.

Synonyms: autosomal recessive spastic paraplegia 79B, early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, spastic paraplegia 79 autosomal recessive, SPG79, SPG79B

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

: uchl1

MIM:

MIM:615491 - SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE; SPG79B

MIM:615491 - SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE; SPG79B

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)