Human Phenotype Ontology 
Grandparent Node:
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Abnormality of eye movement (HP:0000496)help
Parent Node:
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Abnormality of ocular smooth pursuit (HP:0000617)help
..Starting node
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Jerky ocular pursuit movements (HP:0008003)help
Term ID: 8003
Name: Jerky ocular pursuit movements
Synonym: Jerky smooth pursuit
Definition:
Comments:
Reference: HP:0008003
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandImpaired pursuit initiation and maintenance (HP:0007668) help
..expandImpaired smooth pursuit (HP:0007772) help
..expandSaccadic smooth pursuit (HP:0001152) 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:0008003HP:0008003Jerky ocular pursuit movements0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0008003HP:0008003Jerky ocular pursuit movements0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040283 - Occasional30
HP:0008003HP:0008003Jerky ocular pursuit movements0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0008003HP:0008003Jerky ocular pursuit movements0KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 13.17
HP:0008003HP:0008003Jerky ocular pursuit movements0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040283 - Occasional17
HP:0008003HP:0008003Jerky ocular pursuit movements0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0008003HP:0008003Jerky ocular pursuit movements0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040283 - Occasional126
HP:0008003HP:0008003Jerky ocular pursuit movements0SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14HP:0040283 - Occasional126
HP:0008003HP:0008003Jerky ocular pursuit movements0TTBK2 CL E G H14605719141ORPHA:98767Spinocerebellar ataxia type 11HP:0040281 - Very frequent57


Genes (6) :AARS1 GBA2 KCNC3 PRNP SPTBN2 TTBK2

Diseases (9) :OMIM:619691 ORPHA:320391 OMIM:614409 OMIM:605259 ORPHA:98768 ORPHA:157941 ORPHA:352403 OMIM:615386 ORPHA:98767
 

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