Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormality of eye movement (HP:0000496)help
..Starting node
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Abnormal saccadic eye movements (HP:0000570)help
Term ID: 570
Name: Abnormal saccadic eye movements
Synonym: Abnormality of saccadic eye movements; Impaired saccades
Definition: An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.
Comments:
Reference: HP:0000570
Genes and Diseases:
 
       Child Nodes:
........expandSlow saccadic eye movements (HP:0000514) help
................... HP:0007885 Slowed horizontal saccades
........expandHypometric saccades (HP:0000571) help
................... HP:0007975 Hypometric horizontal saccades
................... HP:0031833 Hypometric upward saccades
........expandDysmetric saccades (HP:0000641) help
........expandHypermetric saccades (HP:0007338) help
................... HP:0031832 Hypermetric downward saccades
........expandSquare-wave jerks (HP:0025402) help

 Sister Nodes: 
..expandAbnormal conjugate eye movement (HP:0000549) help
..expandAbnormal involuntary eye movements (HP:0012547) help
..expandAbnormal ocular alignment (HP:0500073) help
..expandAbnormal visual fixation (HP:0025404) help
..expandAbnormality of ocular abduction (HP:0011347) help
..expandAbnormality of ocular smooth pursuit (HP:0000617) help
..expandCompensatory head posture (HP:0031705) help
..expandImpaired ocular adduction (HP:0000542) help
..expandLimited extraocular movements (HP:0007941) help
..expandMarcus Gunn jaw winking synkinesis (HP:0025186) help
..expandOculomotor apraxia (HP:0000657) help
..expandOphthalmoparesis (HP:0000597) help
..expandVisual gaze preference (HP:0025518) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000570HP:0000570Abnormal saccadic eye movements0FXN CL E G H239595ORPHA1661303951606829
HP:0000570HP:0000570Abnormal saccadic eye movements0GBA2 CL E G H57704352641ORPHA12324118986609471
HP:0000570HP:0000570Abnormal saccadic eye movements0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15446121474613037
HP:0000570HP:0000570Abnormal saccadic eye movements0ITPR1 CL E G H3708208513ORPHA1958506180147265
HP:0000570HP:0000570Abnormal saccadic eye movements0KIF1A CL E G H547101010ORPHA1431405888601255
HP:0000570HP:0000570Abnormal saccadic eye movements0SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM1512510606184755
HP:0000570HP:0000570Abnormal saccadic eye movements0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1815125018613277
HP:0000570HP:0000570Abnormal saccadic eye movements1FXN CL E G H239595ORPHA1661303951606829
HP:0000570HP:0000570Abnormal saccadic eye movements1GBA2 CL E G H57704352641ORPHA12324118986609471
HP:0000570HP:0000570Abnormal saccadic eye movements1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15446121474613037
HP:0000570HP:0000570Abnormal saccadic eye movements1ITPR1 CL E G H3708208513ORPHA1958506180147265
HP:0000570HP:0000570Abnormal saccadic eye movements1KIF1A CL E G H547101010ORPHA1431405888601255
HP:0000570HP:0000570Abnormal saccadic eye movements1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM1512510606184755
HP:0000570HP:0000570Abnormal saccadic eye movements1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1815125018613277
HP:0000570HP:0000570Abnormal saccadic eye movements2FXN CL E G H239595ORPHA1661303951606829
HP:0000570HP:0000570Abnormal saccadic eye movements2GBA2 CL E G H57704352641ORPHA12324118986609471
HP:0000570HP:0000570Abnormal saccadic eye movements2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15446121474613037
HP:0000570HP:0000570Abnormal saccadic eye movements2ITPR1 CL E G H3708208513ORPHA1958506180147265
HP:0000570HP:0000570Abnormal saccadic eye movements2KIF1A CL E G H547101010ORPHA1431405888601255
HP:0000570HP:0000570Abnormal saccadic eye movements2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM1512510606184755
HP:0000570HP:0000570Abnormal saccadic eye movements2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1815125018613277
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000570HP:0000570Abnormal saccadic eye movements0C19orf12 CL E G H83636289560ORPHA03823825443614297
HP:0000570HP:0000570Abnormal saccadic eye movements0TUBB3 CL E G H10381300570ORPHA02618820772602661
HP:0000570HP:0000570Abnormal saccadic eye movements1C19orf12 CL E G H83636289560ORPHA03823825443614297
HP:0000570HP:0000570Abnormal saccadic eye movements1TUBB3 CL E G H10381300570ORPHA02618820772602661
HP:0000570HP:0000570Abnormal saccadic eye movements2C19orf12 CL E G H83636289560ORPHA03823825443614297
HP:0000570HP:0000570Abnormal saccadic eye movements2TUBB3 CL E G H10381300570ORPHA02618820772602661


Genes (61) :AFG3L2 AGTPBP1 ALS2 ANO10 APTX ATP13A2 ATP2B3 ATXN1 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS C19ORF12 CACNA1G CLCN7 DNAJC6 EEF2 ELOVL5 FBXO7 FGF14 FXN GBA GBA2 GJC2 GRM1 INPP5E ITPR1 KIF1A MFN2 MME MRE11 NKX6-2 NME1 NOP56 NPHP1 PDYN PEX10 PEX2 PIK3R5 PLA2G6 PLD3 PRNP SCP2 SCYL1 SLC1A3 SLC35A2 SLC6A3 SNCA SNX10 SPTBN2 TCIRG1 TGM6 TMEM216 TMEM240 TNFSF11 TPP1 TUBB3 VAMP1 VPS13D XRCC1

Diseases (76) :289560 95 352641 213300 208513 101010 613724 608091 300570 101109 610246 618276 607225 284289 613728 208920 306674 606693 302500 98755 164400 98756 183090 109150 164500 608768 458803 615528 101112 609306 423296 615957 171695 260300 609307 613206 324262 617691 614831 606658 601152 497764 617018 251347 604391 527497 617560 276198 614153 609583 101108 610245 614871 614867 615217 199351 617770 157941 466794 612656 352403 615386 276193 607454 284324 609270 251282 108600 607317 617633 667 2072 231005 256700 300896 613135
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.