Human Phenotype Ontology 
Grandparent Node:
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Abnormality of eye movement (HP:0000496)help
Parent Node:
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Abnormal involuntary eye movements (HP:0012547)help
..Starting node
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Opsoclonus (HP:0010543)help
Term ID: 10543
Name: Opsoclonus
Synonym:
Definition: Bursts of large-amplitude multidirectional saccades without intersaccadic interval
Comments:
Reference: HP:0010543
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChaotic rapid conjugate ocular movements (HP:0007295) help
..expandNystagmus (HP:0000639) help
..expandParoxysmal involuntary eye movements (HP:0007704) help
..expandUncontrolled eye movements (HP:0007738) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010543HP:0010543Opsoclonus0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0010543HP:0010543Opsoclonus0FRMD5 CL E G H8497828214OMIM:620094
HP:0010543HP:0010543Opsoclonus0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0010543HP:0010543Opsoclonus0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0010543HP:0010543Opsoclonus0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent2
HP:0010543HP:0010543Opsoclonus0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent82
HP:0010543HP:0010543Opsoclonus0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0010543HP:0010543Opsoclonus0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent44


Genes (8) :CLCN7 FRMD5 GBA1 KIF1B SNX10 TCIRG1 TMEM240 TNFSF11

Diseases (5) :ORPHA:667 OMIM:620094 ORPHA:2072 OMIM:256700 OMIM:607454
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.