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

..Starting node
..Saccadic oscillation (HP:0032104)

Term ID:

32104

Name:

Saccadic oscillation

Synonym:

Saccadic oscillations

Definition:

An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.

Comments:

Reference:

HP:0032104

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032104	HP:0032104	Saccadic oscillation	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood		239
HP:0032104	HP:0032104	Saccadic oscillation	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood		150
HP:0032104	HP:0032104	Saccadic oscillation	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood		449
HP:0032104	HP:0032104	Saccadic oscillation	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0032104	HP:0032104	Saccadic oscillation	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0032104	HP:0032104	Saccadic oscillation	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0032104	HP:0032104	Saccadic oscillation	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to		202
HP:0032104	HP:0032104	Saccadic oscillation	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood		63
HP:0032104	HP:0032104	Saccadic oscillation	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0032104	HP:0032104	Saccadic oscillation	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1		13
HP:0032104	HP:0032104	Saccadic oscillation	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0032104	HP:0032104	Saccadic oscillation	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0032104	HP:0032104	Saccadic oscillation	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0032104	HP:0032104	Saccadic oscillation	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0032104	HP:0032104	Saccadic oscillation	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0032104	HP:0031931	Ocular flutter	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0032104	HP:0031931	Ocular flutter	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0032104	HP:0031931	Ocular flutter	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0032104	HP:0010543	Opsoclonus	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	102
HP:0032104	HP:0010543	Opsoclonus	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0032104	HP:0010543	Opsoclonus	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0032104	HP:0010543	Opsoclonus	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0032104	HP:0031931	Ocular flutter	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0032104	HP:0031931	Ocular flutter	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm	.	27
HP:0032104	HP:0031931	Ocular flutter	1	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.	13
HP:0032104	HP:0010543	Opsoclonus	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	2
HP:0032104	HP:0010543	Opsoclonus	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	82
HP:0032104	HP:0010543	Opsoclonus	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0032104	HP:0010543	Opsoclonus	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	44
HP:0032104	HP:0032105	Macrosaccadic oscillations	1	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.

Genes (15) :ATP1A2 ATP1A3 CACNA1A CLCN7 FRMD5 GBA1 KIF1B SLC1A3 SLC35A2 SLC6A3 SNX10 TCIRG1 TMEM240 TNFSF11 VPS13D

Diseases (9) :ORPHA:2131 ORPHA:667 OMIM:620094 ORPHA:2072 OMIM:256700 OMIM:300896 OMIM:613135 OMIM:607454 OMIM:607317

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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