Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- HPO Ontology Browser
- Core Symptoms (draft)
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
Collaboration
Submission

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:
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	385	315	604581
HP:0000641	HP:0000641	Dysmetric saccades	0	ANO10 CL E G H	55129	284289				ORPHA	1	240	25519	613726
HP:0000641	HP:0000641	Dysmetric saccades	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0000641	HP:0000641	Dysmetric saccades	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	53	10555	601517
HP:0000641	HP:0000641	Dysmetric saccades	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	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	79	10561	603680
HP:0000641	HP:0000641	Dysmetric saccades	0	EEF2 CL E G H	1938	101112				ORPHA	1	204	3214	130610
HP:0000641	HP:0000641	Dysmetric saccades	0	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	204	3214	130610
HP:0000641	HP:0000641	Dysmetric saccades	0	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	208	3671	601515
HP:0000641	HP:0000641	Dysmetric saccades	0	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	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	1063	16877	608507
HP:0000641	HP:0000641	Dysmetric saccades	0	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	654	8851	602859
HP:0000641	HP:0000641	Dysmetric saccades	0	SCYL1 CL E G H	57410	466794				ORPHA	1	73	14372	607982
HP:0000641	HP:0000641	Dysmetric saccades	0	TPP1 CL E G H	1200	284324				ORPHA	1	849	2073	607998
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ANO10 CL E G H	55129	284289				ORPHA	1	240	25519	613726
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ANO10 CL E G H	55129	284289				ORPHA	1	240	25519	613726
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	53	10555	601517
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	53	10555	601517
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	7106	607047
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	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:0032014	Dysmetric vertical saccades	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	79	10561	603680
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	79	10561	603680
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	EEF2 CL E G H	1938	101112				ORPHA	1	204	3214	130610
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	EEF2 CL E G H	1938	101112				ORPHA	1	204	3214	130610
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	204	3214	130610
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	204	3214	130610
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	208	3671	601515
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	208	3671	601515
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
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	1063	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	1063	16877	608507
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	654	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	654	8851	602859
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	SCYL1 CL E G H	57410	466794				ORPHA	1	73	14372	607982
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	SCYL1 CL E G H	57410	466794				ORPHA	1	73	14372	607982
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	TPP1 CL E G H	1200	284324				ORPHA	1	849	2073	607998
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	TPP1 CL E G H	1200	284324				ORPHA	1	849	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	1729	7230	600814
HP:0000641	HP:0000641	Dysmetric saccades	0	SPTBN2 CL E G H	6712	352403				ORPHA	0	716	11276	604985
HP:0000641	HP:0000641	Dysmetric saccades	0	TGM6 CL E G H	343641	276193				ORPHA	0	289	16255	613900
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	MRE11 CL E G H	4361	251347				ORPHA	0	1729	7230	600814
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	MRE11 CL E G H	4361	251347				ORPHA	0	1729	7230	600814
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	SPTBN2 CL E G H	6712	352403				ORPHA	0	716	11276	604985
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	SPTBN2 CL E G H	6712	352403				ORPHA	0	716	11276	604985
HP:0000641	HP:0032015	Dysmetric horizontal saccades	1	TGM6 CL E G H	343641	276193				ORPHA	0	289	16255	613900
HP:0000641	HP:0032014	Dysmetric vertical saccades	1	TGM6 CL E G H	343641	276193				ORPHA	0	289	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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen