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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Paroxysmal involuntary eye movements (HP:0007704)help
Term ID: 7704
Name: Paroxysmal involuntary eye movements
Synonym: Abnormal eye movements, paroxysmal
Definition: Sudden-onset episode of abnormal, involuntary eye movements.
Comments:
Reference: HP:0007704
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChaotic rapid conjugate ocular movements (HP:0007295) help
..expandNystagmus (HP:0000639) help
..expandOpsoclonus (HP:0010543) 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:0007704HP:0007704Paroxysmal involuntary eye movements0ABCA4 CL E G H2434ORPHA:827Stargardt diseaseHP:0040281 - Very frequent826
HP:0007704HP:0007704Paroxysmal involuntary eye movements0CNGB3 CL E G H547142153ORPHA:827Stargardt diseaseHP:0040281 - Very frequent194
HP:0007704HP:0007704Paroxysmal involuntary eye movements0ELOVL4 CL E G H678514415ORPHA:827Stargardt diseaseHP:0040281 - Very frequent62
HP:0007704HP:0007704Paroxysmal involuntary eye movements0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0007704HP:0007704Paroxysmal involuntary eye movements0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0007704HP:0007704Paroxysmal involuntary eye movements0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0007704HP:0007704Paroxysmal involuntary eye movements0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent7
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent32
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent40
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent26
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent31
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent50
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent34
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent3
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent9
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent16
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent81
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent65
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent22
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent21
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent38
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent42
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent74
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent2
HP:0007704HP:0007704Paroxysmal involuntary eye movements0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent89
HP:0007704HP:0007704Paroxysmal involuntary eye movements0PROM1 CL E G H88429454ORPHA:827Stargardt diseaseHP:0040281 - Very frequent110
HP:0007704HP:0007704Paroxysmal involuntary eye movements0PRPH2 CL E G H59619942ORPHA:827Stargardt diseaseHP:0040281 - Very frequent159
HP:0007704HP:0007704Paroxysmal involuntary eye movements0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0007704HP:0007704Paroxysmal involuntary eye movements0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040282 - Frequent255
HP:0007704HP:0007704Paroxysmal involuntary eye movements0SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1.255
HP:0007704HP:0007704Paroxysmal involuntary eye movements0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040283 - Occasional27
HP:0007704HP:0007704Paroxysmal involuntary eye movements0TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0007704HP:0007704Paroxysmal involuntary eye movements0TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent4


Genes (38) :ABCA4 CNGB3 ELOVL4 FOXRED1 ND1 ND2 ND3 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NKX6-2 NUBPL PROM1 PRPH2 PSAT1 SLC2A1 SLC35A2 TIMMDC1 TMEM126B

Diseases (7) :ORPHA:827 ORPHA:2609 ORPHA:527497 ORPHA:284417 ORPHA:71277 OMIM:606777 ORPHA:356961
 

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