Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Gaze-evoked nystagmus (HP:0000640)

Parent Node:
Horizontal nystagmus (HP:0000666)

..Starting node
..Gaze-evoked horizontal nystagmus (HP:0007979)

Term ID:

7979

Name:

Gaze-evoked horizontal nystagmus

Synonym:

Nystagmus, horizontal gaze-evoked; Nystagmus, horizontal, gaze-evoked

Definition:

Horizontal nystagmus made apparent by looking to the right or to the left.

Comments:

Reference:

HP:0007979

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital horizontal nystagmus (HP:0007859)

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	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	239
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31	HP:0040282 - Frequent	1
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	449
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040281 - Very frequent	449
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent	32
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040283 - Occasional	8
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.	177
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.	35
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	94
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	1053
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional	24
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	HP:0040282 - Frequent	4
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0007979	HP:0007979	Gaze-evoked horizontal nystagmus	0	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria	HP:0040281 - Very frequent	8

Genes (17) :ATP1A2 BEAN1 CACNA1A CACNA1G GCH1 GRM1 ITPR1 KCND3 PAX7 PRRT2 RBL2 SACS SCN1A SOX3 SYT14 THG1L UROC1

Diseases (16) :ORPHA:569 OMIM:117210 ORPHA:98758 ORPHA:458803 OMIM:128230 ORPHA:324262 OMIM:614831 OMIM:606658 OMIM:607346 OMIM:618578 OMIM:619690 ORPHA:98 ORPHA:67045 ORPHA:284271 OMIM:618800 ORPHA:210128

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

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