Human Phenotype Ontology

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:
Abnormality of ocular smooth pursuit (HP:0000617)

..Starting node
..Impaired pursuit initiation and maintenance (HP:0007668)

Term ID:

7668

Name:

Impaired pursuit initiation and maintenance

Synonym:

Definition:

Comments:

Reference:

HP:0007668

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired smooth pursuit (HP:0007772)

Jerky ocular pursuit movements (HP:0008003)

Saccadic smooth pursuit (HP:0001152)

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:0007668	HP:0007668	Impaired pursuit initiation and maintenance	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare	60
HP:0007668	HP:0007668	Impaired pursuit initiation and maintenance	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7

Genes (2) :DARS2 TBP

Diseases (2) :ORPHA:137898 OMIM:607136

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