Human Phenotype Ontology

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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
..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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007338	HP:0007338	Hypermetric saccades	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	.	64
HP:0007338	HP:0007338	Hypermetric saccades	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional	19
HP:0007338	HP:0007338	Hypermetric saccades	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0007338	HP:0007338	Hypermetric saccades	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44		8
HP:0007338	HP:0007338	Hypermetric saccades	0	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0007338	HP:0007338	Hypermetric saccades	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0007338	HP:0007338	Hypermetric saccades	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0007338	HP:0007338	Hypermetric saccades	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.	203
HP:0007338	HP:0007338	Hypermetric saccades	0	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0007338	HP:0007338	Hypermetric saccades	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0007338	HP:0007338	Hypermetric saccades	0	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0007338	HP:0007338	Hypermetric saccades	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.	4
HP:0007338	HP:0032013	Hypermetric horizontal saccades	1	CL E G H
HP:0007338	HP:0031832	Hypermetric downward saccades	1	CL E G H

Genes (11) :ANO10 ATXN1 GDAP2 GRM1 KCNN2 PRDX3 TMEM240 TPP1 VPS13D VPS41 XRCC1

Diseases (11) :OMIM:613728 ORPHA:98755 OMIM:618369 OMIM:617691 OMIM:619724 OMIM:619862 OMIM:607454 OMIM:609270 ORPHA:95434 OMIM:607317 OMIM:617633

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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