neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset

Summary

DOID:0081364 - neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset

Disease Ontology Definition:A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35.

Synonyms:

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

: sqstm1

MIM:

MIM:617145 - NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP

MIM:617145 - NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): neurodegenerative disease (is_a)