Human Phenotype Ontology 
Grandparent Node:
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Abnormal involuntary eye movements (HP:0012547)help
Parent Node:
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Nystagmus (HP:0000639)help
..Starting node
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Pendular nystagmus (HP:0012043)help
Term ID: 12043
Name: Pendular nystagmus
Synonym: Nystagmus, continuous pendular; Nystagmus, pendular
Definition: Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
Comments:
Reference: HP:0012043
Genes and Diseases:
 
       Child Nodes:
........expandHorizontal pendular nystagmus (HP:0007811) help
........expandSpasmus nutans (HP:0010533) help
........expandSeesaw nystagmus (HP:0012044) help

 Sister Nodes: 
..expandCongenital nystagmus (HP:0006934) help
..expandDivergence nystagmus (HP:0030691) help
..expandGaze-evoked nystagmus (HP:0000640) help
..expandHorizontal nystagmus (HP:0000666) help
..expandNystagmus-induced head nodding (HP:0001361) help
..expandRotary nystagmus (HP:0001583) help
..expandVertical nystagmus (HP:0010544) help
..expandVestibular nystagmus (HP:0010542) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012043HP:0012043Pendular nystagmus0AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM179359604392
HP:0012043HP:0012043Pendular nystagmus0ATF6 CL E G H2292649382ORPHA116791605537
HP:0012043HP:0012043Pendular nystagmus0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM1913907609875
HP:0012043HP:0012043Pendular nystagmus0CNGA3 CL E G H126149382ORPHA11522150600053
HP:0012043HP:0012043Pendular nystagmus0CNGB3 CL E G H5471449382ORPHA11262153605080
HP:0012043HP:0012043Pendular nystagmus0CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM13472343604210
HP:0012043HP:0012043Pendular nystagmus0CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM11072383602225
HP:0012043HP:0012043Pendular nystagmus0FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM1958079300628
HP:0012043HP:0012043Pendular nystagmus0GNAT2 CL E G H278049382ORPHA1164394139340
HP:0012043HP:0012043Pendular nystagmus0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM115004300193
HP:0012043HP:0012043Pendular nystagmus0NT5C2 CL E G H22978320396ORPHA188022600417
HP:0012043HP:0012043Pendular nystagmus0NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM118066605815
HP:0012043HP:0012043Pendular nystagmus0OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM1639936300822
HP:0012043HP:0012043Pendular nystagmus0OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM1214206300821
HP:0012043HP:0012043Pendular nystagmus0PDE6C CL E G H514649382ORPHA1588787600827
HP:0012043HP:0012043Pendular nystagmus0PDE6H CL E G H514949382ORPHA128790601190
HP:0012043HP:0012043Pendular nystagmus0RPGR CL E G H610349382ORPHA124510295312610
HP:0012043HP:0012043Pendular nystagmus0RPGRIP1 CL E G H57096613826Leber congenital amaurosis 6613826C1854260OMIM114913436605446
HP:0012043HP:0012043Pendular nystagmus0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM12529529608628
HP:0012043HP:0012043Pendular nystagmus0TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM1329944610083
HP:0012043HP:0012043Pendular nystagmus1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM179359604392
HP:0012043HP:0012043Pendular nystagmus1ATF6 CL E G H2292649382ORPHA116791605537
HP:0012043HP:0012043Pendular nystagmus1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM1913907609875
HP:0012043HP:0012043Pendular nystagmus1CNGA3 CL E G H126149382ORPHA11522150600053
HP:0012043HP:0012043Pendular nystagmus1CNGB3 CL E G H5471449382ORPHA11262153605080
HP:0012043HP:0012043Pendular nystagmus1CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM13472343604210
HP:0012043HP:0012043Pendular nystagmus1CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM11072383602225
HP:0012043HP:0012043Pendular nystagmus1FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM1958079300628
HP:0012043HP:0012043Pendular nystagmus1GNAT2 CL E G H278049382ORPHA1164394139340
HP:0012043HP:0012043Pendular nystagmus1HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM115004300193
HP:0012043HP:0012043Pendular nystagmus1NT5C2 CL E G H22978320396ORPHA188022600417
HP:0012043HP:0012043Pendular nystagmus1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM118066605815
HP:0012043HP:0012043Pendular nystagmus1OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM1639936300822
HP:0012043HP:0012043Pendular nystagmus1OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM1214206300821
HP:0012043HP:0012043Pendular nystagmus1PDE6C CL E G H514649382ORPHA1588787600827
HP:0012043HP:0012043Pendular nystagmus1PDE6H CL E G H514949382ORPHA128790601190
HP:0012043HP:0012043Pendular nystagmus1RPGR CL E G H610349382ORPHA124510295312610
HP:0012043HP:0012043Pendular nystagmus1RPGRIP1 CL E G H57096613826Leber congenital amaurosis 6613826C1854260OMIM114913436605446
HP:0012043HP:0012043Pendular nystagmus1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM12529529608628
HP:0012043HP:0012043Pendular nystagmus1TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM1329944610083
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (24) :ADAR AIPL1 ATF6 ATOH7 ATP6 CNGA3 CNGB3 CRB1 CRX FRMD7 GNAT2 HMGB3 LRP5 NT5C2 NUP62 OPN1LW OPN1MW PDE6C PDE6H RPGR RPGRIP1 TBL1XR1 TENM3 TMEM231

Diseases (17) :604393 49382 221900 613835 613829 310700 300915 320396 271930 303700 613826 602342 615145 225154 262300 601813 2752
 

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