Human Phenotype Ontology 
Grandparent Node:
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Nystagmus (HP:0000639)help
Parent Node:
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Vertical nystagmus (HP:0010544)help
..Starting node
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Upbeat nystagmus (HP:0011477)help
Term ID: 11477
Name: Upbeat nystagmus
Synonym:
Definition: In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient.
Comments:
Reference: HP:0011477
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDownbeat nystagmus (HP:0010545) 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:0011477HP:0011477Upbeat nystagmus0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040282 - Frequent36
HP:0011477HP:0011477Upbeat nystagmus0FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant.47


Genes (2) :AHDC1 FGF14

Diseases (2) :ORPHA:412069 OMIM:193003
 

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