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)

..Starting node
..Congenital horizontal nystagmus (HP:0007859)

Term ID:

7859

Name:

Congenital horizontal nystagmus

Synonym:

Nystagmus, congenital horizontal

Definition:

Horizontal nystagmus dating from or present at birth.

Comments:

Reference:

HP:0007859

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gaze-evoked horizontal nystagmus (HP:0007979)

Horizontal jerk nystagmus (HP:0007286)

Horizontal opticokinetic nystagmus (HP:0008026)

Horizontal pendular nystagmus (HP:0007811)

Monocular horizontal nystagmus (HP:0007747)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007859	HP:0007859	Congenital horizontal nystagmus	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS	32

Genes (1) :GRIK2

Diseases (1) :OMIM:619580

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