neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Disease Ontology Browser

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Disease Ontology Browser

neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset (DOID:0081364)
Alliance: disease page
Alt IDs: OMIM:617145
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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