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 saccadic eye movements (HP:0000570)

..Starting node
..Slow saccadic eye movements (HP:0000514)

Term ID:

514

Name:

Slow saccadic eye movements

Synonym:

Slow eye movements; Slow saccades; Slow visual tracking

Definition:

An abnormally slow velocity of the saccadic eye movements.

Comments:

Reference:

HP:0000514

Genes and Diseases:

Child Nodes:

........

Slowed horizontal saccades (HP:0007885)

Sister Nodes:

Dysmetric saccades (HP:0000641)

Hypermetric saccades (HP:0007338)

Hypometric saccades (HP:0000571)

Square-wave jerks (HP:0025402)

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:0000514	HP:0000514	Slow saccadic eye movements	0	AFG3L2 CL E G H	10939	101109				ORPHA	1	357	315	604581
HP:0000514	HP:0000514	Slow saccadic eye movements	0	AFG3L2 CL E G H	10939	101109				ORPHA	1	349	315	604581
HP:0000514	HP:0000514	Slow saccadic eye movements	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	357	315	604581
HP:0000514	HP:0000514	Slow saccadic eye movements	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	349	315	604581
HP:0000514	HP:0000514	Slow saccadic eye movements	0	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	64	17258	606830
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1	524	443	606352
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1	644	443	606352
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATP13A2 CL E G H	23400	306674				ORPHA	1	609	30213	610513
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATP13A2 CL E G H	23400	306674				ORPHA	1	487	30213	610513
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1	487	30213	610513
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1	609	30213	610513
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	292	816	300014
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	300	816	300014
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATXN1 CL E G H	6310	98755				ORPHA	1	78	10548	601556
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATXN1 CL E G H	6310	98755				ORPHA	1	76	10548	601556
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	76	10548	601556
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	78	10548	601556
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATXN2 CL E G H	6311	98756				ORPHA	1	52	10555	601517
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATXN2 CL E G H	6311	98756				ORPHA	1	50	10555	601517
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	50	10555	601517
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	52	10555	601517
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	37	10560	607640
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	39	10560	607640
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	76	10561	603680
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	72	10561	603680
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ELOVL5 CL E G H	60481	423296				ORPHA	1	52	21308	611805
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ELOVL5 CL E G H	60481	423296				ORPHA	1	49	21308	611805
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ELOVL5 CL E G H	60481	615957	Spinocerebellar ataxia 38	615957	C4014812	OMIM	1	49	21308	611805
HP:0000514	HP:0000514	Slow saccadic eye movements	0	ELOVL5 CL E G H	60481	615957	Spinocerebellar ataxia 38	615957	C4014812	OMIM	1	52	21308	611805
HP:0000514	HP:0000514	Slow saccadic eye movements	0	FBXO7 CL E G H	25793	171695				ORPHA	1	183	13586	605648
HP:0000514	HP:0000514	Slow saccadic eye movements	0	FBXO7 CL E G H	25793	171695				ORPHA	1	161	13586	605648
HP:0000514	HP:0000514	Slow saccadic eye movements	0	FBXO7 CL E G H	25793	260300	Parkinson disease 15	260300	C1850100	OMIM	1	161	13586	605648
HP:0000514	HP:0000514	Slow saccadic eye movements	0	FBXO7 CL E G H	25793	260300	Parkinson disease 15	260300	C1850100	OMIM	1	183	13586	605648
HP:0000514	HP:0000514	Slow saccadic eye movements	0	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	221	17494	608803
HP:0000514	HP:0000514	Slow saccadic eye movements	0	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	174	17494	608803
HP:0000514	HP:0000514	Slow saccadic eye movements	0	MRE11 CL E G H	4361	251347				ORPHA	1	1259	7230	600814
HP:0000514	HP:0000514	Slow saccadic eye movements	0	MRE11 CL E G H	4361	251347				ORPHA	1	1258	7230	600814
HP:0000514	HP:0000514	Slow saccadic eye movements	0	NOP56 CL E G H	10528	276198				ORPHA	1	44	15911	614154
HP:0000514	HP:0000514	Slow saccadic eye movements	0	NOP56 CL E G H	10528	276198				ORPHA	1	43	15911	614154
HP:0000514	HP:0000514	Slow saccadic eye movements	0	PDYN CL E G H	5173	101108				ORPHA	1	159	8820	131340
HP:0000514	HP:0000514	Slow saccadic eye movements	0	PDYN CL E G H	5173	101108				ORPHA	1	144	8820	131340
HP:0000514	HP:0000514	Slow saccadic eye movements	0	PDYN CL E G H	5173	610245	Spinocerebellar ataxia 23	610245	C1853250	OMIM	1	159	8820	131340
HP:0000514	HP:0000514	Slow saccadic eye movements	0	PDYN CL E G H	5173	610245	Spinocerebellar ataxia 23	610245	C1853250	OMIM	1	144	8820	131340
HP:0000514	HP:0000514	Slow saccadic eye movements	0	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	319	9717	170993
HP:0000514	HP:0000514	Slow saccadic eye movements	0	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	254	9717	170993
HP:0000514	HP:0000514	Slow saccadic eye movements	0	PIK3R5 CL E G H	23533	615217	Ataxia-oculomotor apraxia 3	615217	C3554690	OMIM	1	48	30035	611317
HP:0000514	HP:0000514	Slow saccadic eye movements	0	PLD3 CL E G H	23646	617770	SPINOCEREBELLAR ATAXIA 46	617770	C4540404	OMIM	1	19	17158	615698
HP:0000514	HP:0000514	Slow saccadic eye movements	0	PLD3 CL E G H	23646	617770	SPINOCEREBELLAR ATAXIA 46	617770	C4540404	OMIM	1	20	17158	615698
HP:0000514	HP:0000514	Slow saccadic eye movements	0	SNCA CL E G H	6622	171695				ORPHA	1	166	11138	163890
HP:0000514	HP:0000514	Slow saccadic eye movements	0	SNCA CL E G H	6622	171695				ORPHA	1	154	11138	163890
HP:0000514	HP:0000514	Slow saccadic eye movements	0	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	176	25186	616101
HP:0000514	HP:0000514	Slow saccadic eye movements	0	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	186	25186	616101
HP:0000514	HP:0000514	Slow saccadic eye movements	0	VAMP1 CL E G H	6843	251282				ORPHA	1	99	12642	185880
HP:0000514	HP:0000514	Slow saccadic eye movements	0	VAMP1 CL E G H	6843	251282				ORPHA	1	83	12642	185880
HP:0000514	HP:0000514	Slow saccadic eye movements	0	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	83	12642	185880
HP:0000514	HP:0000514	Slow saccadic eye movements	0	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	99	12642	185880
HP:0000514	HP:0007885	Slowed horizontal saccades	1	AFG3L2 CL E G H	10939	101109				ORPHA	1	349	315	604581
HP:0000514	HP:0007885	Slowed horizontal saccades	1	AFG3L2 CL E G H	10939	101109				ORPHA	1	357	315	604581
HP:0000514	HP:0007885	Slowed horizontal saccades	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	349	315	604581
HP:0000514	HP:0007885	Slowed horizontal saccades	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	357	315	604581
HP:0000514	HP:0007885	Slowed horizontal saccades	1	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	64	17258	606830
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1	644	443	606352
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1	524	443	606352
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATP13A2 CL E G H	23400	306674				ORPHA	1	487	30213	610513
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATP13A2 CL E G H	23400	306674				ORPHA	1	609	30213	610513
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1	609	30213	610513
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1	487	30213	610513
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	300	816	300014
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	292	816	300014
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATXN1 CL E G H	6310	98755				ORPHA	1	76	10548	601556
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATXN1 CL E G H	6310	98755				ORPHA	1	78	10548	601556
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	78	10548	601556
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	76	10548	601556
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATXN2 CL E G H	6311	98756				ORPHA	1	50	10555	601517
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATXN2 CL E G H	6311	98756				ORPHA	1	52	10555	601517
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	52	10555	601517
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	50	10555	601517
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	39	10560	607640
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	37	10560	607640
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	72	10561	603680
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	76	10561	603680
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ELOVL5 CL E G H	60481	423296				ORPHA	1	49	21308	611805
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ELOVL5 CL E G H	60481	423296				ORPHA	1	52	21308	611805
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ELOVL5 CL E G H	60481	615957	Spinocerebellar ataxia 38	615957	C4014812	OMIM	1	52	21308	611805
HP:0000514	HP:0007885	Slowed horizontal saccades	1	ELOVL5 CL E G H	60481	615957	Spinocerebellar ataxia 38	615957	C4014812	OMIM	1	49	21308	611805
HP:0000514	HP:0007885	Slowed horizontal saccades	1	FBXO7 CL E G H	25793	171695				ORPHA	1	161	13586	605648
HP:0000514	HP:0007885	Slowed horizontal saccades	1	FBXO7 CL E G H	25793	171695				ORPHA	1	183	13586	605648
HP:0000514	HP:0007885	Slowed horizontal saccades	1	FBXO7 CL E G H	25793	260300	Parkinson disease 15	260300	C1850100	OMIM	1	183	13586	605648
HP:0000514	HP:0007885	Slowed horizontal saccades	1	FBXO7 CL E G H	25793	260300	Parkinson disease 15	260300	C1850100	OMIM	1	161	13586	605648
HP:0000514	HP:0007885	Slowed horizontal saccades	1	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	174	17494	608803
HP:0000514	HP:0007885	Slowed horizontal saccades	1	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	221	17494	608803
HP:0000514	HP:0007885	Slowed horizontal saccades	1	MRE11 CL E G H	4361	251347				ORPHA	1	1258	7230	600814
HP:0000514	HP:0007885	Slowed horizontal saccades	1	MRE11 CL E G H	4361	251347				ORPHA	1	1259	7230	600814
HP:0000514	HP:0007885	Slowed horizontal saccades	1	NOP56 CL E G H	10528	276198				ORPHA	1	43	15911	614154
HP:0000514	HP:0007885	Slowed horizontal saccades	1	NOP56 CL E G H	10528	276198				ORPHA	1	44	15911	614154
HP:0000514	HP:0007885	Slowed horizontal saccades	1	PDYN CL E G H	5173	101108				ORPHA	1	144	8820	131340
HP:0000514	HP:0007885	Slowed horizontal saccades	1	PDYN CL E G H	5173	101108				ORPHA	1	159	8820	131340
HP:0000514	HP:0007885	Slowed horizontal saccades	1	PDYN CL E G H	5173	610245	Spinocerebellar ataxia 23	610245	C1853250	OMIM	1	144	8820	131340
HP:0000514	HP:0007885	Slowed horizontal saccades	1	PDYN CL E G H	5173	610245	Spinocerebellar ataxia 23	610245	C1853250	OMIM	1	159	8820	131340
HP:0000514	HP:0007885	Slowed horizontal saccades	1	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	254	9717	170993
HP:0000514	HP:0007885	Slowed horizontal saccades	1	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	319	9717	170993
HP:0000514	HP:0007885	Slowed horizontal saccades	1	PIK3R5 CL E G H	23533	615217	Ataxia-oculomotor apraxia 3	615217	C3554690	OMIM	1	48	30035	611317
HP:0000514	HP:0007885	Slowed horizontal saccades	1	PLD3 CL E G H	23646	617770	SPINOCEREBELLAR ATAXIA 46	617770	C4540404	OMIM	1	20	17158	615698
HP:0000514	HP:0007885	Slowed horizontal saccades	1	PLD3 CL E G H	23646	617770	SPINOCEREBELLAR ATAXIA 46	617770	C4540404	OMIM	1	19	17158	615698
HP:0000514	HP:0007885	Slowed horizontal saccades	1	SNCA CL E G H	6622	171695				ORPHA	1	154	11138	163890
HP:0000514	HP:0007885	Slowed horizontal saccades	1	SNCA CL E G H	6622	171695				ORPHA	1	166	11138	163890
HP:0000514	HP:0007885	Slowed horizontal saccades	1	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	186	25186	616101
HP:0000514	HP:0007885	Slowed horizontal saccades	1	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	176	25186	616101
HP:0000514	HP:0007885	Slowed horizontal saccades	1	VAMP1 CL E G H	6843	251282				ORPHA	1	83	12642	185880
HP:0000514	HP:0007885	Slowed horizontal saccades	1	VAMP1 CL E G H	6843	251282				ORPHA	1	99	12642	185880
HP:0000514	HP:0007885	Slowed horizontal saccades	1	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	99	12642	185880
HP:0000514	HP:0007885	Slowed horizontal saccades	1	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	83	12642	185880
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000514	HP:0000514	Slow saccadic eye movements	0	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	44	15911	614154
HP:0000514	HP:0000514	Slow saccadic eye movements	0	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	43	15911	614154
HP:0000514	HP:0000514	Slow saccadic eye movements	0	PRNP CL E G H	5621	157941				ORPHA	0	146	9449	176640
HP:0000514	HP:0000514	Slow saccadic eye movements	0	PRNP CL E G H	5621	157941				ORPHA	0	131	9449	176640
HP:0000514	HP:0007885	Slowed horizontal saccades	1	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	43	15911	614154
HP:0000514	HP:0007885	Slowed horizontal saccades	1	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	44	15911	614154
HP:0000514	HP:0007885	Slowed horizontal saccades	1	PRNP CL E G H	5621	157941				ORPHA	0	131	9449	176640
HP:0000514	HP:0007885	Slowed horizontal saccades	1	PRNP CL E G H	5621	157941				ORPHA	0	146	9449	176640

Genes (24) :AFG3L2 AGTPBP1 ALS2 ATP13A2 ATP2B3 ATXN1 ATXN2 ATXN7 ATXN8 ATXN8OS ELOVL5 FBXO7 GBA GJC2 MRE11 NOP56 PDYN PEX2 PIK3R5 PLD3 PRNP SNCA TMEM240 VAMP1

Diseases (32) :101109 610246 618276 607225 306674 606693 302500 98755 164400 98756 183090 164500 608768 423296 615957 171695 260300 613206 251347 276198 614153 101108 610245 614867 615217 617770 157941 607454 251282 108600 2072 231005

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

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