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
..Dysmetric saccades (HP:0000641)

Term ID:

641

Name:

Dysmetric saccades

Synonym:

Dysmetric eye movements; Dysmetric eye saccades; Uncoordinated eye movement

Definition:

The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.

Comments:

Reference:

HP:0000641

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypermetric saccades (HP:0007338)

Hypometric saccades (HP:0000571)

Slow saccadic eye movements (HP:0000514)

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:0000641	HP:0000641	Dysmetric saccades	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	357	315	604581
HP:0000641	HP:0000641	Dysmetric saccades	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	349	315	604581
HP:0000641	HP:0000641	Dysmetric saccades	0	ANO10 CL E G H	55129	284289				ORPHA	1	222	25519	613726
HP:0000641	HP:0000641	Dysmetric saccades	0	ANO10 CL E G H	55129	284289				ORPHA	1	214	25519	613726
HP:0000641	HP:0000641	Dysmetric saccades	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	76	10548	601556
HP:0000641	HP:0000641	Dysmetric saccades	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	78	10548	601556
HP:0000641	HP:0000641	Dysmetric saccades	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	52	10555	601517
HP:0000641	HP:0000641	Dysmetric saccades	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	50	10555	601517
HP:0000641	HP:0000641	Dysmetric saccades	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	44	7106	607047
HP:0000641	HP:0000641	Dysmetric saccades	0	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0000641	HP:0000641	Dysmetric saccades	0	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	76	10561	603680
HP:0000641	HP:0000641	Dysmetric saccades	0	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	72	10561	603680
HP:0000641	HP:0000641	Dysmetric saccades	0	EEF2 CL E G H	1938	101112				ORPHA	1	174	3214	130610
HP:0000641	HP:0000641	Dysmetric saccades	0	EEF2 CL E G H	1938	101112				ORPHA	1	170	3214	130610
HP:0000641	HP:0000641	Dysmetric saccades	0	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	174	3214	130610
HP:0000641	HP:0000641	Dysmetric saccades	0	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	170	3214	130610
HP:0000641	HP:0000641	Dysmetric saccades	0	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	190	3671	601515
HP:0000641	HP:0000641	Dysmetric saccades	0	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	187	3671	601515
HP:0000641	HP:0000641	Dysmetric saccades	0	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	969	6180	147265
HP:0000641	HP:0000641	Dysmetric saccades	0	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	895	6180	147265
HP:0000641	HP:0000641	Dysmetric saccades	0	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	824	16877	608507
HP:0000641	HP:0000641	Dysmetric saccades	0	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	944	16877	608507
HP:0000641	HP:0000641	Dysmetric saccades	0	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	578	8851	602859
HP:0000641	HP:0000641	Dysmetric saccades	0	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	480	8851	602859
HP:0000641	HP:0000641	Dysmetric saccades	0	SCYL1 CL E G H	57410	466794				ORPHA	1	69	14372	607982
HP:0000641	HP:0000641	Dysmetric saccades	0	SCYL1 CL E G H	57410	466794				ORPHA	1	68	14372	607982
HP:0000641	HP:0000641	Dysmetric saccades	0	TPP1 CL E G H	1200	284324				ORPHA	1	745	2073	607998
HP:0000641	HP:0000641	Dysmetric saccades	0	TPP1 CL E G H	1200	284324				ORPHA	1	645	2073	607998
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	357	315	604581
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	349	315	604581
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	357	315	604581
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	349	315	604581
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ANO10 CL E G H	55129	284289				ORPHA	1	222	25519	613726
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ANO10 CL E G H	55129	284289				ORPHA	1	214	25519	613726
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ANO10 CL E G H	55129	284289				ORPHA	1	222	25519	613726
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ANO10 CL E G H	55129	284289				ORPHA	1	214	25519	613726
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	76	10548	601556
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	78	10548	601556
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	76	10548	601556
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	78	10548	601556
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	50	10555	601517
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	52	10555	601517
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	50	10555	601517
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	52	10555	601517
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	44	7106	607047
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	44	7106	607047
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	76	10561	603680
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	72	10561	603680
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	76	10561	603680
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	72	10561	603680
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	EEF2 CL E G H	1938	101112				ORPHA	1	174	3214	130610
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	EEF2 CL E G H	1938	101112				ORPHA	1	170	3214	130610
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	EEF2 CL E G H	1938	101112				ORPHA	1	174	3214	130610
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	EEF2 CL E G H	1938	101112				ORPHA	1	170	3214	130610
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	174	3214	130610
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	170	3214	130610
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	174	3214	130610
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	170	3214	130610
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	190	3671	601515
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	187	3671	601515
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	190	3671	601515
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	187	3671	601515
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	895	6180	147265
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	969	6180	147265
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	895	6180	147265
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	969	6180	147265
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	824	16877	608507
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	944	16877	608507
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	824	16877	608507
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	944	16877	608507
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	578	8851	602859
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	480	8851	602859
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	578	8851	602859
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	480	8851	602859
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	SCYL1 CL E G H	57410	466794				ORPHA	1	69	14372	607982
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	SCYL1 CL E G H	57410	466794				ORPHA	1	68	14372	607982
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	SCYL1 CL E G H	57410	466794				ORPHA	1	69	14372	607982
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	SCYL1 CL E G H	57410	466794				ORPHA	1	68	14372	607982
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	TPP1 CL E G H	1200	284324				ORPHA	1	745	2073	607998
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	TPP1 CL E G H	1200	284324				ORPHA	1	645	2073	607998
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	TPP1 CL E G H	1200	284324				ORPHA	1	745	2073	607998
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	TPP1 CL E G H	1200	284324				ORPHA	1	645	2073	607998
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000641	HP:0000641	Dysmetric saccades	0	MRE11 CL E G H	4361	251347				ORPHA	0	1259	7230	600814
HP:0000641	HP:0000641	Dysmetric saccades	0	MRE11 CL E G H	4361	251347				ORPHA	0	1258	7230	600814
HP:0000641	HP:0000641	Dysmetric saccades	0	SPTBN2 CL E G H	6712	352403				ORPHA	0	569	11276	604985
HP:0000641	HP:0000641	Dysmetric saccades	0	SPTBN2 CL E G H	6712	352403				ORPHA	0	478	11276	604985
HP:0000641	HP:0000641	Dysmetric saccades	0	TGM6 CL E G H	343641	276193				ORPHA	0	275	16255	613900
HP:0000641	HP:0000641	Dysmetric saccades	0	TGM6 CL E G H	343641	276193				ORPHA	0	270	16255	613900
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	MRE11 CL E G H	4361	251347				ORPHA	0	1259	7230	600814
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	MRE11 CL E G H	4361	251347				ORPHA	0	1258	7230	600814
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	MRE11 CL E G H	4361	251347				ORPHA	0	1259	7230	600814
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	MRE11 CL E G H	4361	251347				ORPHA	0	1258	7230	600814
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	SPTBN2 CL E G H	6712	352403				ORPHA	0	569	11276	604985
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	SPTBN2 CL E G H	6712	352403				ORPHA	0	478	11276	604985
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	SPTBN2 CL E G H	6712	352403				ORPHA	0	569	11276	604985
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	SPTBN2 CL E G H	6712	352403				ORPHA	0	478	11276	604985
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	TGM6 CL E G H	343641	276193				ORPHA	0	275	16255	613900
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	TGM6 CL E G H	343641	276193				ORPHA	0	270	16255	613900
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	TGM6 CL E G H	343641	276193				ORPHA	0	275	16255	613900
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	TGM6 CL E G H	343641	276193				ORPHA	0	270	16255	613900

Genes (17) :AFG3L2 ANO10 ATXN1 ATXN2 ATXN3 ATXN8 ATXN8OS EEF2 FGF14 ITPR1 MFN2 MRE11 PEX10 SCYL1 SPTBN2 TGM6 TPP1

Diseases (17) :610246 284289 164400 183090 109150 608768 101112 609306 609307 606658 601152 251347 614871 466794 352403 276193 284324

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

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