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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Abnormality of ocular smooth pursuit (HP:0000617)help
Term ID: 617
Name: Abnormality of ocular smooth pursuit
Synonym: Abnormal smooth pursuits; Disrupted ocular pursuit movements; Impaired smooth pursuit ocular movements; Irregular visual pursuit movements
Definition: An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.
Comments:
Reference: HP:0000617
Genes and Diseases:
 
       Child Nodes:
........expandSaccadic smooth pursuit (HP:0001152) help
................... HP:0007792 Microsaccadic pursuit
................... HP:0007944 Intermittent microsaccadic pursuits
........expandImpaired pursuit initiation and maintenance (HP:0007668) help
........expandImpaired smooth pursuit (HP:0007772) help
................... HP:0001151 Impaired horizontal smooth pursuit
................... HP:0007179 Absent smooth pursuit
........expandJerky ocular pursuit movements (HP:0008003) help

 Sister Nodes: 
..expandAbnormal conjugate eye movement (HP:0000549) help
..expandAbnormal involuntary eye movements (HP:0012547) help
..expandAbnormal ocular alignment (HP:0500073) help
..expandAbnormal saccadic eye movements (HP:0000570) help
..expandAbnormal visual fixation (HP:0025404) help
..expandAbnormality of ocular abduction (HP:0011347) 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:0000617HP:0000617Abnormality of ocular smooth pursuit0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15446121474613037
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0POLR3A CL E G H11128447896ORPHA19245330074614258
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0SYT14 CL E G H255928284271ORPHA138023143610949
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1815125018613277
HP:0000617HP:0000617Abnormality of ocular smooth pursuit1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15446121474613037
HP:0000617HP:0000617Abnormality of ocular smooth pursuit1POLR3A CL E G H11128447896ORPHA19245330074614258
HP:0000617HP:0000617Abnormality of ocular smooth pursuit1SYT14 CL E G H255928284271ORPHA138023143610949
HP:0000617HP:0000617Abnormality of ocular smooth pursuit1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1815125018613277
HP:0000617HP:0000617Abnormality of ocular smooth pursuit2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15446121474613037
HP:0000617HP:0000617Abnormality of ocular smooth pursuit2POLR3A CL E G H11128447896ORPHA19245330074614258
HP:0000617HP:0000617Abnormality of ocular smooth pursuit2SYT14 CL E G H255928284271ORPHA138023143610949
HP:0000617HP:0000617Abnormality of ocular smooth pursuit2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1815125018613277
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0MRE11 CL E G H4361251347ORPHA05712507230600814
HP:0000617HP:0000617Abnormality of ocular smooth pursuit1MRE11 CL E G H4361251347ORPHA05712507230600814
HP:0000617HP:0000617Abnormality of ocular smooth pursuit2MRE11 CL E G H4361251347ORPHA05712507230600814


Genes (53) :ALS2 ANO10 ATN1 ATP2B3 ATXN1 ATXN10 ATXN2 ATXN3 ATXN8 ATXN8OS CACNA1A CACNA1G EEF2 ELOVL4 FGF14 FMR1 GBA2 GJB1 GNB1 INPP5E ITPR1 KCNC3 KCND3 MAN2B1 MRE11 NOP56 PEX10 PIK3R5 PLA2G6 PMPCA POLR3A POLR3B PRKCG PRNP RARS RUBCN SACS SCYL1 SETX SPG11 SPTBN2 STT3A STUB1 STXBP1 SYT14 TBP TMEM216 TMEM240 TPP1 TSEN54 TTBK2 TULP1 ZFYVE26

Diseases (68) :213300 251347 447896 284271 608091 606353 284289 101 314978 98761 98760 608768 108500 183086 458803 616795 133190 609307 300623 320391 614409 1175 488613 616973 606658 98768 605259 98772 248500 604391 614153 247815 614871 64753 610217 213200 98763 157941 137440 404499 270550 466794 606002 2822 352403 600224 615386 370921 412057 614229 607136 284324 609270 277470 98767 613843 100996 164400 183090 109150 101112 609306 607346 614381 438114 612164 98773 607454
 

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