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DO Term : neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset [DOID:0081364] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • 617145,
  • OMIM:617145
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents