Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Nystagmus (HP:0000639)

Parent Node:
Congenital nystagmus (HP:0006934)

Parent Node:
Horizontal nystagmus (HP:0000666)

Parent Node:
Pendular nystagmus (HP:0012043)

..Starting node
..Horizontal pendular nystagmus (HP:0007811)

Term ID:

7811

Name:

Horizontal pendular nystagmus

Synonym:

Definition:

Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.

Comments:

Reference:

HP:0007811

Genes and Diseases:

Child Nodes:

Sister Nodes:

Seesaw nystagmus (HP:0012044)

Spasmus nutans (HP:0010533)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007811	HP:0007811	Horizontal pendular nystagmus	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0007811	HP:0007811	Horizontal pendular nystagmus	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0007811	HP:0007811	Horizontal pendular nystagmus	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0007811	HP:0007811	Horizontal pendular nystagmus	0	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.	194
HP:0007811	HP:0007811	Horizontal pendular nystagmus	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.	125
HP:0007811	HP:0007811	Horizontal pendular nystagmus	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0007811	HP:0007811	Horizontal pendular nystagmus	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16

Genes (7) :ADAR ARHGEF2 ATP6 CNGB3 LRP5 NUP62 TMEM106B

Diseases (5) :ORPHA:225154 OMIM:617523 OMIM:262300 OMIM:601813 OMIM:617964

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