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
..Hypermetric saccades (HP:0007338)

Term ID:

7338

Name:

Hypermetric saccades

Synonym:

Definition:

A saccade that overshoots the target with the dynamic saccade.

Comments:

Reference:

HP:0007338

Genes and Diseases:

Child Nodes:

........

Hypermetric downward saccades (HP:0031832)

Sister Nodes:

Dysmetric saccades (HP:0000641)

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:0007338	HP:0007338	Hypermetric saccades	0	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	214	25519	613726
HP:0007338	HP:0007338	Hypermetric saccades	0	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	222	25519	613726
HP:0007338	HP:0007338	Hypermetric saccades	0	GRM1 CL E G H	2911	617691	SPINOCEREBELLAR ATAXIA 44	617691	C4521563	OMIM	1	186	4593	604473
HP:0007338	HP:0007338	Hypermetric saccades	0	GRM1 CL E G H	2911	617691	SPINOCEREBELLAR ATAXIA 44	617691	C4521563	OMIM	1	193	4593	604473
HP:0007338	HP:0007338	Hypermetric saccades	0	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	745	2073	607998
HP:0007338	HP:0007338	Hypermetric saccades	0	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	645	2073	607998
HP:0007338	HP:0007338	Hypermetric saccades	0	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	191	23595	608877
HP:0007338	HP:0007338	Hypermetric saccades	0	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	266	23595	608877
HP:0007338	HP:0007338	Hypermetric saccades	0	XRCC1 CL E G H	7515	617633	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26	617633	C4539948	OMIM	1	47	12828	194360
HP:0007338	HP:0007338	Hypermetric saccades	0	XRCC1 CL E G H	7515	617633	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26	617633	C4539948	OMIM	1	45	12828	194360
HP:0007338	HP:0031832	Hypermetric downward saccades	1	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	214	25519	613726
HP:0007338	HP:0032013	Hypermetric horizontal saccades	1	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	222	25519	613726
HP:0007338	HP:0032013	Hypermetric horizontal saccades	1	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	214	25519	613726
HP:0007338	HP:0031832	Hypermetric downward saccades	1	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	222	25519	613726
HP:0007338	HP:0031832	Hypermetric downward saccades	1	GRM1 CL E G H	2911	617691	SPINOCEREBELLAR ATAXIA 44	617691	C4521563	OMIM	1	186	4593	604473
HP:0007338	HP:0032013	Hypermetric horizontal saccades	1	GRM1 CL E G H	2911	617691	SPINOCEREBELLAR ATAXIA 44	617691	C4521563	OMIM	1	193	4593	604473
HP:0007338	HP:0032013	Hypermetric horizontal saccades	1	GRM1 CL E G H	2911	617691	SPINOCEREBELLAR ATAXIA 44	617691	C4521563	OMIM	1	186	4593	604473
HP:0007338	HP:0031832	Hypermetric downward saccades	1	GRM1 CL E G H	2911	617691	SPINOCEREBELLAR ATAXIA 44	617691	C4521563	OMIM	1	193	4593	604473
HP:0007338	HP:0032013	Hypermetric horizontal saccades	1	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	645	2073	607998
HP:0007338	HP:0031832	Hypermetric downward saccades	1	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	745	2073	607998
HP:0007338	HP:0031832	Hypermetric downward saccades	1	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	645	2073	607998
HP:0007338	HP:0032013	Hypermetric horizontal saccades	1	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	745	2073	607998
HP:0007338	HP:0031832	Hypermetric downward saccades	1	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	191	23595	608877
HP:0007338	HP:0032013	Hypermetric horizontal saccades	1	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	266	23595	608877
HP:0007338	HP:0032013	Hypermetric horizontal saccades	1	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	191	23595	608877
HP:0007338	HP:0031832	Hypermetric downward saccades	1	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	266	23595	608877
HP:0007338	HP:0032013	Hypermetric horizontal saccades	1	XRCC1 CL E G H	7515	617633	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26	617633	C4539948	OMIM	1	45	12828	194360
HP:0007338	HP:0031832	Hypermetric downward saccades	1	XRCC1 CL E G H	7515	617633	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26	617633	C4539948	OMIM	1	47	12828	194360
HP:0007338	HP:0031832	Hypermetric downward saccades	1	XRCC1 CL E G H	7515	617633	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26	617633	C4539948	OMIM	1	45	12828	194360
HP:0007338	HP:0032013	Hypermetric horizontal saccades	1	XRCC1 CL E G H	7515	617633	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26	617633	C4539948	OMIM	1	47	12828	194360
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007338	HP:0007338	Hypermetric saccades	0	ATXN1 CL E G H	6310	98755				ORPHA	0	78	10548	601556
HP:0007338	HP:0007338	Hypermetric saccades	0	ATXN1 CL E G H	6310	98755				ORPHA	0	76	10548	601556
HP:0007338	HP:0032013	Hypermetric horizontal saccades	1	ATXN1 CL E G H	6310	98755				ORPHA	0	76	10548	601556
HP:0007338	HP:0031832	Hypermetric downward saccades	1	ATXN1 CL E G H	6310	98755				ORPHA	0	78	10548	601556
HP:0007338	HP:0031832	Hypermetric downward saccades	1	ATXN1 CL E G H	6310	98755				ORPHA	0	76	10548	601556
HP:0007338	HP:0032013	Hypermetric horizontal saccades	1	ATXN1 CL E G H	6310	98755				ORPHA	0	78	10548	601556

Genes (6) :ANO10 ATXN1 GRM1 TPP1 VPS13D XRCC1

Diseases (6) :613728 98755 617691 609270 607317 617633

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

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