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benign paroxysmal tonic upgaze of childhood with ataxia
Disease Summary
Associated Targets ()
Mondo Description Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.
Mondo Term and Equivalent IDs
MONDO:0008206: benign paroxysmal tonic upgaze of childhood with ataxia
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0004176
MESH:C566817
OMIM:168885
Orphanet:1179
SCTID:763127004
UMLS:C1868576
MONDO:0008206
High level summary of knowledge for a disease, including descriptions and datasource references.