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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007944	HP:0007944	Intermittent microsaccadic pursuits	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.	35
HP:0007944	HP:0007944	Intermittent microsaccadic pursuits	0	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040281 - Very frequent	9

Genes (2) :KCND3 TMEM240

Diseases (2) :OMIM:607346 ORPHA:98773

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