Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal conjugate eye movement (HP:0000549)help
Parent Node:
expand
Supranuclear gaze palsy (HP:0000605)help
..Starting node
..expand
Vertical supranuclear gaze palsy (HP:0000511)help
Term ID: 511
Name: Vertical supranuclear gaze palsy
Synonym: Vertical gaze palsy
Definition: A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
Comments:
Reference: HP:0000511
Genes and Diseases:
 
       Child Nodes:
........expandDowngaze palsy (HP:0025330) help
........expandUpgaze palsy (HP:0025331) help

 Sister Nodes: 
..expandHorizontal supranuclear gaze palsy (HP:0007817) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000511HP:0000511Vertical supranuclear gaze palsy0ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM158120601641
HP:0000511HP:0000511Vertical supranuclear gaze palsy0ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM141120601641
HP:0000511HP:0000511Vertical supranuclear gaze palsy0CCDC88C CL E G H440193423275ORPHA126519967611204
HP:0000511HP:0000511Vertical supranuclear gaze palsy0CCDC88C CL E G H440193423275ORPHA125819967611204
HP:0000511HP:0000511Vertical supranuclear gaze palsy0DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM16932711601143
HP:0000511HP:0000511Vertical supranuclear gaze palsy0DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM15652711601143
HP:0000511HP:0000511Vertical supranuclear gaze palsy0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM112887897607623
HP:0000511HP:0000511Vertical supranuclear gaze palsy0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM110857897607623
HP:0000511HP:0000511Vertical supranuclear gaze palsy0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM114714537601015
HP:0000511HP:0000511Vertical supranuclear gaze palsy0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM112714537601015
HP:0000511HP:0000511Vertical supranuclear gaze palsy0POLR3A CL E G H11128447896ORPHA165430074614258
HP:0000511HP:0000511Vertical supranuclear gaze palsy0POLR3A CL E G H11128447896ORPHA148430074614258
HP:0000511HP:0000511Vertical supranuclear gaze palsy0SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM147311280601530
HP:0000511HP:0000511Vertical supranuclear gaze palsy0SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM138311280601530
HP:0000511HP:0025331Upgaze palsy1ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM158120601641
HP:0000511HP:0025331Upgaze palsy1ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM141120601641
HP:0000511HP:0025330Downgaze palsy1ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM158120601641
HP:0000511HP:0025330Downgaze palsy1ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM141120601641
HP:0000511HP:0025331Upgaze palsy1CCDC88C CL E G H440193423275ORPHA126519967611204
HP:0000511HP:0025331Upgaze palsy1CCDC88C CL E G H440193423275ORPHA125819967611204
HP:0000511HP:0025330Downgaze palsy1CCDC88C CL E G H440193423275ORPHA126519967611204
HP:0000511HP:0025330Downgaze palsy1CCDC88C CL E G H440193423275ORPHA125819967611204
HP:0000511HP:0025330Downgaze palsy1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM16932711601143
HP:0000511HP:0025330Downgaze palsy1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM15652711601143
HP:0000511HP:0025331Upgaze palsy1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM16932711601143
HP:0000511HP:0025331Upgaze palsy1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM15652711601143
HP:0000511HP:0025331Upgaze palsy1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM112887897607623
HP:0000511HP:0025331Upgaze palsy1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM110857897607623
HP:0000511HP:0025330Downgaze palsy1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM112887897607623
HP:0000511HP:0025330Downgaze palsy1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM110857897607623
HP:0000511HP:0025330Downgaze palsy1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM114714537601015
HP:0000511HP:0025330Downgaze palsy1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM112714537601015
HP:0000511HP:0025331Upgaze palsy1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM114714537601015
HP:0000511HP:0025331Upgaze palsy1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM112714537601015
HP:0000511HP:0025330Downgaze palsy1POLR3A CL E G H11128447896ORPHA165430074614258
HP:0000511HP:0025330Downgaze palsy1POLR3A CL E G H11128447896ORPHA148430074614258
HP:0000511HP:0025331Upgaze palsy1POLR3A CL E G H11128447896ORPHA165430074614258
HP:0000511HP:0025331Upgaze palsy1POLR3A CL E G H11128447896ORPHA148430074614258
HP:0000511HP:0025330Downgaze palsy1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM147311280601530
HP:0000511HP:0025330Downgaze palsy1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM138311280601530
HP:0000511HP:0025331Upgaze palsy1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM147311280601530
HP:0000511HP:0025331Upgaze palsy1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM138311280601530
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000511HP:0000511Vertical supranuclear gaze palsy0ATP13A2 CL E G H23400306674ORPHA060930213610513
HP:0000511HP:0000511Vertical supranuclear gaze palsy0ATP13A2 CL E G H23400306674ORPHA048730213610513
HP:0000511HP:0000511Vertical supranuclear gaze palsy0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM04415911614154
HP:0000511HP:0000511Vertical supranuclear gaze palsy0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM04315911614154
HP:0000511HP:0025330Downgaze palsy1ATP13A2 CL E G H23400306674ORPHA060930213610513
HP:0000511HP:0025330Downgaze palsy1ATP13A2 CL E G H23400306674ORPHA048730213610513
HP:0000511HP:0025331Upgaze palsy1ATP13A2 CL E G H23400306674ORPHA060930213610513
HP:0000511HP:0025331Upgaze palsy1ATP13A2 CL E G H23400306674ORPHA048730213610513
HP:0000511HP:0025331Upgaze palsy1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM04415911614154
HP:0000511HP:0025331Upgaze palsy1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM04315911614154
HP:0000511HP:0025330Downgaze palsy1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM04415911614154
HP:0000511HP:0025330Downgaze palsy1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM04315911614154


Genes (13) :ACOX2 ATP13A2 ATXN1 CCDC88C DCTN1 KCNC3 NOP56 NPC1 NPC2 POLG POLR3A SQSTM1 TWNK

Diseases (13) :617308 306674 423275 168605 614153 257220 607625 447896 617145 314632 98755 98768 70595
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.