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:
Abnormality of ocular smooth pursuit (HP:0000617)

..Starting node
..Saccadic smooth pursuit (HP:0001152)

Term ID:

1152

Name:

Saccadic smooth pursuit

Synonym:

Saccadic pursuit movements; Saccadic slow pursuit

Definition:

An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.

Comments:

Reference:

HP:0001152

Genes and Diseases:

Child Nodes:

........

Microsaccadic pursuit (HP:0007792)

........

Intermittent microsaccadic pursuits (HP:0007944)

Sister Nodes:

Impaired pursuit initiation and maintenance (HP:0007668)

Impaired smooth pursuit (HP:0007772)

Jerky ocular pursuit movements (HP:0008003)

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:0001152	HP:0001152	Saccadic smooth pursuit	0	ALS2 CL E G H	57679	606353	Juvenile primary lateral sclerosis	606353	C1853396	OMIM	1	73	443	606352
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	ANO10 CL E G H	55129	284289				ORPHA	1	19	25519	613726
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	ATN1 CL E G H	1822	101				ORPHA	1	5	3033	607462
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	ATP2B3 CL E G H	492	314978				ORPHA	1	7	816	300014
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	CACNA1A CL E G H	773	108500	Episodic ataxia type 2	108500	C1720416	OMIM	1	251	1388	601011
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	CACNA1G CL E G H	8913	458803				ORPHA	1	12	1394	604065
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	81	3775	309550
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	GJB1 CL E G H	2705	1175	CDK4 linked melanoma			ORPHA	1	499	4283	304040
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	PIK3R5 CL E G H	23533	64753				ORPHA	1	2	30035	611317
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	PMPCA CL E G H	23203	213200	Spinocerebellar ataxia, autosomal recessive 2	213200	C1859298	OMIM	1	8	18667	613036
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	RUBCN CL E G H	9711	404499				ORPHA	1	4	28991	613516
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	SCYL1 CL E G H	57410	466794				ORPHA	1	11	14372	607982
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	SETX CL E G H	23064	64753				ORPHA	1	216	445	608465
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	1	216	445	608465
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	SPG11 CL E G H	80208	2822	Hyperinsulinism, focal			ORPHA	1	293	11226	610844
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	TPP1 CL E G H	1200	284324				ORPHA	1	115	2073	607998
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	115	2073	607998
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	ALS2 CL E G H	57679	606353	Juvenile primary lateral sclerosis	606353	C1853396	OMIM	1	73	443	606352
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	ANO10 CL E G H	55129	284289				ORPHA	1	19	25519	613726
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	ATN1 CL E G H	1822	101				ORPHA	1	5	3033	607462
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	ATP2B3 CL E G H	492	314978				ORPHA	1	7	816	300014
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	CACNA1A CL E G H	773	108500	Episodic ataxia type 2	108500	C1720416	OMIM	1	251	1388	601011
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	CACNA1G CL E G H	8913	458803				ORPHA	1	12	1394	604065
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	81	3775	309550
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	GJB1 CL E G H	2705	1175	CDK4 linked melanoma			ORPHA	1	499	4283	304040
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	PIK3R5 CL E G H	23533	64753				ORPHA	1	2	30035	611317
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	PMPCA CL E G H	23203	213200	Spinocerebellar ataxia, autosomal recessive 2	213200	C1859298	OMIM	1	8	18667	613036
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	RUBCN CL E G H	9711	404499				ORPHA	1	4	28991	613516
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	SCYL1 CL E G H	57410	466794				ORPHA	1	11	14372	607982
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	SETX CL E G H	23064	64753				ORPHA	1	216	445	608465
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	1	216	445	608465
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	SPG11 CL E G H	80208	2822	Hyperinsulinism, focal			ORPHA	1	293	11226	610844
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	TPP1 CL E G H	1200	284324				ORPHA	1	115	2073	607998
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	115	2073	607998
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	0	12	1394	604065
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	PRKCG CL E G H	5582	98763				ORPHA	0	52	9402	176980
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	STUB1 CL E G H	10273	412057				ORPHA	0	31	11427	607207
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	ZFYVE26 CL E G H	23503	100996				ORPHA	0	45	20761	612012
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	0	12	1394	604065
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	PRKCG CL E G H	5582	98763				ORPHA	0	52	9402	176980
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	STUB1 CL E G H	10273	412057				ORPHA	0	31	11427	607207
HP:0001152	HP:0001152	Saccadic smooth pursuit	1	ZFYVE26 CL E G H	23503	100996				ORPHA	0	45	20761	612012

Genes (20) :ALS2 ANO10 ATN1 ATP2B3 CACNA1A CACNA1G FMR1 GJB1 KCND3 PIK3R5 PMPCA PRKCG RUBCN SCYL1 SETX SPG11 STUB1 TMEM240 TPP1 ZFYVE26

Diseases (23) :606353 284289 101 314978 108500 458803 616795 300623 1175 64753 213200 98763 404499 466794 606002 2822 412057 284324 609270 100996 607346 98773 607454

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

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