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:
Abnormality of eye movement (HP:0000496)

Parent Node:
Abnormal involuntary eye movements (HP:0012547)

..Starting node
..Paroxysmal involuntary eye movements (HP:0007704)

Term ID:

7704

Name:

Paroxysmal involuntary eye movements

Synonym:

Abnormal eye movements, paroxysmal

Definition:

Sudden-onset episode of abnormal, involuntary eye movements.

Comments:

Reference:

HP:0007704

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chaotic rapid conjugate ocular movements (HP:0007295)

Nystagmus (HP:0000639)

Opsoclonus (HP:0010543)

Uncontrolled eye movements (HP:0007738)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0007704	HP:0007704	Paroxysmal involuntary eye movements	0	ABCA4 CL E G H	24	827	Stargardt disease		C0271093	ORPHA	1	1280	34	601691
HP:0007704	HP:0007704	Paroxysmal involuntary eye movements	0	CNGB3 CL E G H	54714	827	Stargardt disease		C0271093	ORPHA	1	126	2153	605080
HP:0007704	HP:0007704	Paroxysmal involuntary eye movements	0	ELOVL4 CL E G H	6785	827	Stargardt disease		C0271093	ORPHA	1	17	14415	605512
HP:0007704	HP:0007704	Paroxysmal involuntary eye movements	0	NKX6-2 CL E G H	84504	527497				ORPHA	1	9	19321	605955
HP:0007704	HP:0007704	Paroxysmal involuntary eye movements	0	PROM1 CL E G H	8842	827	Stargardt disease		C0271093	ORPHA	1	83	9454	604365
HP:0007704	HP:0007704	Paroxysmal involuntary eye movements	0	PRPH2 CL E G H	5961	827	Stargardt disease		C0271093	ORPHA	1	181	9942	179605
HP:0007704	HP:0007704	Paroxysmal involuntary eye movements	0	SLC2A1 CL E G H	6513	71277				ORPHA	1	281	11005	138140
HP:0007704	HP:0007704	Paroxysmal involuntary eye movements	0	SLC2A1 CL E G H	6513	606777	GLUT1 deficiency syndrome 1	606777	CN030711	OMIM	1	281	11005	138140
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (7) :ABCA4 CNGB3 ELOVL4 NKX6-2 PROM1 PRPH2 SLC2A1

Diseases (4) :827 527497 71277 606777

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.