Human Phenotype Ontology 
..Starting node
..expandParoxysmal tonic upgaze (HP:0033980)help
Term ID: 33980
Name: Paroxysmal tonic upgaze
Synonym:
Definition: Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness.
Comments:
Reference: HP:0033980
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033980HP:0033980Paroxysmal tonic upgaze0SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0033980HP:0033980Paroxysmal tonic upgaze0SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D66


Genes (2) :SALL4 SEPSECS

Diseases (2) :OMIM:147750 OMIM:613811
 

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