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
..Impaired smooth pursuit (HP:0007772)

Term ID:

7772

Name:

Impaired smooth pursuit

Synonym:

Abnormal visual pursuit; Abnormality of visual tracking; Impairment of visual pursuit

Definition:

An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.

Comments:

Reference:

HP:0007772

Genes and Diseases:

Child Nodes:

........

Impaired horizontal smooth pursuit (HP:0001151)

........

Absent smooth pursuit (HP:0007179)

Sister Nodes:

Impaired pursuit initiation and maintenance (HP:0007668)

Jerky ocular pursuit movements (HP:0008003)

Saccadic smooth pursuit (HP:0001152)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	79	10561	603680
HP:0007772	HP:0007772	Impaired smooth pursuit	0	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2689	1388	601011
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ELOVL4 CL E G H	6785	133190	Erythrokeratodermia with ataxia	133190	C1851481	OMIM	1	242	14415	605512
HP:0007772	HP:0007772	Impaired smooth pursuit	0	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	208	3671	601515
HP:0007772	HP:0007772	Impaired smooth pursuit	0	GNB1 CL E G H	2782	616973	Mental retardation, autosomal dominant 42	616973	C4310774	OMIM	1	310	4396	139380
HP:0007772	HP:0007772	Impaired smooth pursuit	0	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	620	21474	613037
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0007772	HP:0007772	Impaired smooth pursuit	0	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1015	6826	609458
HP:0007772	HP:0007772	Impaired smooth pursuit	0	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1729	7230	600814
HP:0007772	HP:0007772	Impaired smooth pursuit	0	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	1	42	15911	614154
HP:0007772	HP:0007772	Impaired smooth pursuit	0	PEX10 CL E G H	5192	247815				ORPHA	1	654	8851	602859
HP:0007772	HP:0007772	Impaired smooth pursuit	0	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	654	8851	602859
HP:0007772	HP:0007772	Impaired smooth pursuit	0	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	598	9039	603604
HP:0007772	HP:0007772	Impaired smooth pursuit	0	PRNP CL E G H	5621	137440	Gerstmann-Straussler-Scheinker syndrome	137440	C0017495	OMIM	1	164	9449	176640
HP:0007772	HP:0007772	Impaired smooth pursuit	0	SACS CL E G H	26278	270550	Spastic ataxia Charlevoix-Saguenay type	270550	C1849140	OMIM	1	2506	10519	604490
HP:0007772	HP:0007772	Impaired smooth pursuit	0	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	716	11276	604985
HP:0007772	HP:0007772	Impaired smooth pursuit	0	STT3A CL E G H	3703	370921				ORPHA	1	199	6172	601134
HP:0007772	HP:0007772	Impaired smooth pursuit	0	SYT14 CL E G H	255928	614229	Spinocerebellar ataxia, autosomal recessive 11	614229	C3280226	OMIM	1	92	23143	610949
HP:0007772	HP:0007772	Impaired smooth pursuit	0	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	195	25018	613277
HP:0007772	HP:0007772	Impaired smooth pursuit	0	TSEN54 CL E G H	283989	277470	Pontocerebellar hypoplasia type 2A	277470	C1848526	OMIM	1	304	27561	608755
HP:0007772	HP:0007772	Impaired smooth pursuit	0	TULP1 CL E G H	7287	613843	Leber congenital amaurosis 15	613843	C3151206	OMIM	1	472	12423	602280
HP:0007772	HP:0007179	Absent smooth pursuit	1	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0007772	HP:0007179	Absent smooth pursuit	1	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	79	10561	603680
HP:0007772	HP:0007179	Absent smooth pursuit	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	79	10561	603680
HP:0007772	HP:0007179	Absent smooth pursuit	1	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2689	1388	601011
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2689	1388	601011
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	ELOVL4 CL E G H	6785	133190	Erythrokeratodermia with ataxia	133190	C1851481	OMIM	1	242	14415	605512
HP:0007772	HP:0007179	Absent smooth pursuit	1	ELOVL4 CL E G H	6785	133190	Erythrokeratodermia with ataxia	133190	C1851481	OMIM	1	242	14415	605512
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	208	3671	601515
HP:0007772	HP:0007179	Absent smooth pursuit	1	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	208	3671	601515
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	GNB1 CL E G H	2782	616973	Mental retardation, autosomal dominant 42	616973	C4310774	OMIM	1	310	4396	139380
HP:0007772	HP:0007179	Absent smooth pursuit	1	GNB1 CL E G H	2782	616973	Mental retardation, autosomal dominant 42	616973	C4310774	OMIM	1	310	4396	139380
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	620	21474	613037
HP:0007772	HP:0007179	Absent smooth pursuit	1	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	620	21474	613037
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0007772	HP:0007179	Absent smooth pursuit	1	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1015	6826	609458
HP:0007772	HP:0007179	Absent smooth pursuit	1	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1015	6826	609458
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1729	7230	600814
HP:0007772	HP:0007179	Absent smooth pursuit	1	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1729	7230	600814
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	1	42	15911	614154
HP:0007772	HP:0007179	Absent smooth pursuit	1	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	1	42	15911	614154
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	PEX10 CL E G H	5192	247815				ORPHA	1	654	8851	602859
HP:0007772	HP:0007179	Absent smooth pursuit	1	PEX10 CL E G H	5192	247815				ORPHA	1	654	8851	602859
HP:0007772	HP:0007179	Absent smooth pursuit	1	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	654	8851	602859
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	654	8851	602859
HP:0007772	HP:0007179	Absent smooth pursuit	1	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	598	9039	603604
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	598	9039	603604
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	PRNP CL E G H	5621	137440	Gerstmann-Straussler-Scheinker syndrome	137440	C0017495	OMIM	1	164	9449	176640
HP:0007772	HP:0007179	Absent smooth pursuit	1	PRNP CL E G H	5621	137440	Gerstmann-Straussler-Scheinker syndrome	137440	C0017495	OMIM	1	164	9449	176640
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	SACS CL E G H	26278	270550	Spastic ataxia Charlevoix-Saguenay type	270550	C1849140	OMIM	1	2506	10519	604490
HP:0007772	HP:0007179	Absent smooth pursuit	1	SACS CL E G H	26278	270550	Spastic ataxia Charlevoix-Saguenay type	270550	C1849140	OMIM	1	2506	10519	604490
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	716	11276	604985
HP:0007772	HP:0007179	Absent smooth pursuit	1	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	716	11276	604985
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	STT3A CL E G H	3703	370921				ORPHA	1	199	6172	601134
HP:0007772	HP:0007179	Absent smooth pursuit	1	STT3A CL E G H	3703	370921				ORPHA	1	199	6172	601134
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	SYT14 CL E G H	255928	614229	Spinocerebellar ataxia, autosomal recessive 11	614229	C3280226	OMIM	1	92	23143	610949
HP:0007772	HP:0007179	Absent smooth pursuit	1	SYT14 CL E G H	255928	614229	Spinocerebellar ataxia, autosomal recessive 11	614229	C3280226	OMIM	1	92	23143	610949
HP:0007772	HP:0007179	Absent smooth pursuit	1	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	195	25018	613277
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	195	25018	613277
HP:0007772	HP:0007179	Absent smooth pursuit	1	TSEN54 CL E G H	283989	277470	Pontocerebellar hypoplasia type 2A	277470	C1848526	OMIM	1	304	27561	608755
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	TSEN54 CL E G H	283989	277470	Pontocerebellar hypoplasia type 2A	277470	C1848526	OMIM	1	304	27561	608755
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	TULP1 CL E G H	7287	613843	Leber congenital amaurosis 15	613843	C3151206	OMIM	1	472	12423	602280
HP:0007772	HP:0007179	Absent smooth pursuit	1	TULP1 CL E G H	7287	613843	Leber congenital amaurosis 15	613843	C3151206	OMIM	1	472	12423	602280
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ATXN8 CL E G H	724066	98760				ORPHA	0	2	32925	613289
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ATXN8OS CL E G H	6315	98760				ORPHA	0	79	10561	603680
HP:0007772	HP:0007772	Impaired smooth pursuit	0	GNB1 CL E G H	2782	488613				ORPHA	0	310	4396	139380
HP:0007772	HP:0007772	Impaired smooth pursuit	0	KCND3 CL E G H	3752	98772				ORPHA	0	399	6239	605411
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	ATXN8 CL E G H	724066	98760				ORPHA	0	2	32925	613289
HP:0007772	HP:0007179	Absent smooth pursuit	1	ATXN8 CL E G H	724066	98760				ORPHA	0	2	32925	613289
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	ATXN8OS CL E G H	6315	98760				ORPHA	0	79	10561	603680
HP:0007772	HP:0007179	Absent smooth pursuit	1	ATXN8OS CL E G H	6315	98760				ORPHA	0	79	10561	603680
HP:0007772	HP:0007179	Absent smooth pursuit	1	GNB1 CL E G H	2782	488613				ORPHA	0	310	4396	139380
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	GNB1 CL E G H	2782	488613				ORPHA	0	310	4396	139380
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	KCND3 CL E G H	3752	98772				ORPHA	0	399	6239	605411
HP:0007772	HP:0007179	Absent smooth pursuit	1	KCND3 CL E G H	3752	98772				ORPHA	0	399	6239	605411

Genes (30) :ATXN1 ATXN10 ATXN2 ATXN3 ATXN8 ATXN8OS CACNA1A EEF2 ELOVL4 FGF14 GNB1 INPP5E ITPR1 KCND3 MAN2B1 MRE11 NOP56 PEX10 PLA2G6 POLR3B PRNP RARS SACS SPTBN2 STT3A STXBP1 SYT14 TMEM216 TSEN54 TULP1

Diseases (33) :98761 98760 608768 183086 133190 609307 488613 616973 213300 606658 98772 248500 604391 614153 247815 614871 610217 137440 270550 600224 370921 614229 608091 277470 613843 164400 183090 109150 101112 609306 614381 438114 612164

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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