Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Dystonia (HP:0001332)help
..Starting node
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Oculogyric crisis (HP:0010553)help
Term ID: 10553
Name: Oculogyric crisis
Synonym:
Definition: An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.
Comments:
Reference: HP:0010553
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAxial dystonia (HP:0002530) help
..expandFocal dystonia (HP:0004373) help
..expandGeneralized dystonia (HP:0007325) help
..expandLimb dystonia (HP:0002451) help
..expandParoxysmal dystonia (HP:0002268) help
..expandTorsion dystonia (HP:0001304) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010553HP:0010553Oculogyric crisis0ATP13A2 CL E G H23400306674ORPHA160930213610513
HP:0010553HP:0010553Oculogyric crisis0ATP13A2 CL E G H23400306674ORPHA148730213610513
HP:0010553HP:0010553Oculogyric crisis0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15874584138249
HP:0010553HP:0010553Oculogyric crisis0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15314584138249
HP:0010553HP:0010553Oculogyric crisis0SLC18A2 CL E G H6571352649ORPHA110310935193001
HP:0010553HP:0010553Oculogyric crisis0SLC18A2 CL E G H6571352649ORPHA18010935193001
HP:0010553HP:0010553Oculogyric crisis0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM110310935193001
HP:0010553HP:0010553Oculogyric crisis0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM18010935193001
HP:0010553HP:0010553Oculogyric crisis0SLC6A3 CL E G H6531238455ORPHA143911049126455
HP:0010553HP:0010553Oculogyric crisis0SLC6A3 CL E G H6531238455ORPHA138311049126455
HP:0010553HP:0010553Oculogyric crisis0SPR CL E G H669770594ORPHA114511257182125
HP:0010553HP:0010553Oculogyric crisis0SPR CL E G H669770594ORPHA112811257182125
HP:0010553HP:0010553Oculogyric crisis0TH CL E G H7054101150ORPHA165511782191290
HP:0010553HP:0010553Oculogyric crisis0TH CL E G H7054101150ORPHA155011782191290
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010553HP:0010553Oculogyric crisis0DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM08028908606060
HP:0010553HP:0010553Oculogyric crisis0DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM06328908606060
HP:0010553HP:0010553Oculogyric crisis0PTS CL E G H580513Brain malformationC0266449ORPHA01859689612719
HP:0010553HP:0010553Oculogyric crisis0PTS CL E G H580513Brain malformationC0266449ORPHA01649689612719


Genes (8) :ATP13A2 DNAJC12 GRIN1 PTS SLC18A2 SLC6A3 SPR TH

Diseases (9) :306674 617384 614254 13 352649 618049 238455 70594 101150
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.