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 ocular smooth pursuit (HP:0000617)

Parent Node:
Saccadic smooth pursuit (HP:0001152)

..Starting node
..Intermittent microsaccadic pursuits (HP:0007944)

Term ID:

7944

Name:

Intermittent microsaccadic pursuits

Synonym:

Definition:

Comments:

Reference:

HP:0007944

Genes and Diseases:

Child Nodes:

Sister Nodes:

Microsaccadic pursuit (HP:0007792)

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:0007944	HP:0007944	Intermittent microsaccadic pursuits	0	KCND3 CL E G H	3752	607346	Spinocerebellar ataxia 19	607346	C1846367	OMIM	1	266	6239	605411
HP:0007944	HP:0007944	Intermittent microsaccadic pursuits	0	KCND3 CL E G H	3752	607346	Spinocerebellar ataxia 19	607346	C1846367	OMIM	1	233	6239	605411
HP:0007944	HP:0007944	Intermittent microsaccadic pursuits	0	TMEM240 CL E G H	339453	98773				ORPHA	1	186	25186	616101
HP:0007944	HP:0007944	Intermittent microsaccadic pursuits	0	TMEM240 CL E G H	339453	98773				ORPHA	1	176	25186	616101
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (2) :KCND3 TMEM240

Diseases (2) :607346 98773

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