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:
Abnormality of ocular smooth pursuit (HP:0000617)

..Starting node
..Jerky ocular pursuit movements (HP:0008003)

Term ID:

8003

Name:

Jerky ocular pursuit movements

Synonym:

Jerky smooth pursuit

Definition:

Comments:

Reference:

HP:0008003

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired pursuit initiation and maintenance (HP:0007668)

Impaired smooth pursuit (HP:0007772)

Saccadic smooth pursuit (HP:0001152)

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:0008003	HP:0008003	Jerky ocular pursuit movements	0	GBA2 CL E G H	57704	614409	Spastic paraplegia 46, autosomal recessive	614409	C2828721	OMIM	1	277	18986	609471
HP:0008003	HP:0008003	Jerky ocular pursuit movements	0	KCNC3 CL E G H	3748	605259	Spinocerebellar ataxia 13	605259	C1854488	OMIM	1	216	6235	176264
HP:0008003	HP:0008003	Jerky ocular pursuit movements	0	TTBK2 CL E G H	146057	98767				ORPHA	1	234	19141	611695
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008003	HP:0008003	Jerky ocular pursuit movements	0	GBA2 CL E G H	57704	320391				ORPHA	0	277	18986	609471
HP:0008003	HP:0008003	Jerky ocular pursuit movements	0	KCNC3 CL E G H	3748	98768				ORPHA	0	216	6235	176264
HP:0008003	HP:0008003	Jerky ocular pursuit movements	0	PRNP CL E G H	5621	157941				ORPHA	0	164	9449	176640
HP:0008003	HP:0008003	Jerky ocular pursuit movements	0	SPTBN2 CL E G H	6712	352403				ORPHA	0	716	11276	604985
HP:0008003	HP:0008003	Jerky ocular pursuit movements	0	SPTBN2 CL E G H	6712	615386	Spinocerebellar ataxia, autosomal recessive 14	615386	C3809327	OMIM	0	716	11276	604985

Genes (5) :GBA2 KCNC3 PRNP SPTBN2 TTBK2

Diseases (8) :320391 614409 98768 605259 157941 352403 615386 98767

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