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

..Starting node
..Saccadic intrusion (HP:0032114)

Term ID:

32114

Name:

Saccadic intrusion

Synonym:

Definition:

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

Comments:

Reference:

HP:0032114

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:0032114	HP:0032114	Saccadic intrusion	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type		1129
HP:0032114	HP:0032114	Saccadic intrusion	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0032114	HP:0032116	Macrosquare-wave jerks	1	CL E G H
HP:0032114	HP:0025402	Square-wave jerks	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional	1129
HP:0032114	HP:0025402	Square-wave jerks	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130

Genes (2) :SYNE1 VPS13A

Diseases (2) :ORPHA:88644 ORPHA:2388

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