Human Phenotype Ontology 
Grandparent Node:
expand
Nystagmus (HP:0000639)help
Parent Node:
expand
Vertical nystagmus (HP:0010544)help
..Starting node
..expand
Downbeat nystagmus (HP:0010545)help
Term ID: 10545
Name: Downbeat nystagmus
Synonym:
Definition: Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.
Comments:
Reference: HP:0010545
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandUpbeat nystagmus (HP:0011477) 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:0010545HP:0010545Downbeat nystagmus0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0010545HP:0010545Downbeat nystagmus0CACNA1A CL E G H7731388OMIM:108500Episodic ataxia, type 2.449
HP:0010545HP:0010545Downbeat nystagmus0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0010545HP:0010545Downbeat nystagmus0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040284 - Very rare133
HP:0010545HP:0010545Downbeat nystagmus0RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome


Genes (5) :ANO10 CACNA1A COQ2 PLA2G6 RFC1

Diseases (5) :ORPHA:284289 OMIM:108500 ORPHA:227510 ORPHA:35069 OMIM:614575
 

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