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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Vertical nystagmus (HP:0010544)help
Term ID: 10544
Name: Vertical nystagmus
Synonym:
Definition: Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.
Comments:
Reference: HP:0010544
Genes and Diseases:
 
       Child Nodes:
........expandDownbeat nystagmus (HP:0010545) help
........expandUpbeat nystagmus (HP:0011477) 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
..expandPendular nystagmus (HP:0012043) help
..expandRotary nystagmus (HP:0001583) help
..expandVestibular nystagmus (HP:0010542) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010544HP:0010544Vertical nystagmus0CACNA1A CL E G H77398758ORPHA12511388601011
HP:0010544HP:0010544Vertical nystagmus0PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM1149719600414
HP:0010544HP:0010544Vertical nystagmus0TTBK2 CL E G H14605798767ORPHA11119141611695
HP:0010544HP:0010544Vertical nystagmus1CACNA1A CL E G H77398758ORPHA12511388601011
HP:0010544HP:0010544Vertical nystagmus1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM1149719600414
HP:0010544HP:0010544Vertical nystagmus1TTBK2 CL E G H14605798767ORPHA11119141611695
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010544HP:0010544Vertical nystagmus0MRE11 CL E G H4361251347ORPHA0577230600814
HP:0010544HP:0010544Vertical nystagmus0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0348967606097
HP:0010544HP:0010544Vertical nystagmus1MRE11 CL E G H4361251347ORPHA0577230600814
HP:0010544HP:0010544Vertical nystagmus1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0348967606097


Genes (7) :ANO10 CACNA1A COQ2 MRE11 PEX5 PIGN TTBK2

Diseases (8) :98758 251347 616716 280633 98767 284289 108500 227510
 

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