Human Phenotype Ontology

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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:
Abnormal visual fixation (HP:0025404)

..Starting node
..Visual fixation instability (HP:0025405)

Term ID:

25405

Name:

Visual fixation instability

Synonym:

Instability of ocular fixation

Definition:

A deficit in the ability to fixate eye movements in order to stabilize images on the retina

Comments:

Reference:

HP:0025405

Genes and Diseases:

Child Nodes:

Sister Nodes:

Eccentric visual fixation (HP:0025549)

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:0025405	HP:0025405	Visual fixation instability	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional	78
HP:0025405	HP:0025405	Visual fixation instability	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040281 - Very frequent	48
HP:0025405	HP:0025405	Visual fixation instability	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0025405	HP:0025405	Visual fixation instability	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040283 - Occasional	7
HP:0025405	HP:0025405	Visual fixation instability	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040283 - Occasional	177
HP:0025405	HP:0025405	Visual fixation instability	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0025405	HP:0025405	Visual fixation instability	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0025405	HP:0025405	Visual fixation instability	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040282 - Frequent	11
HP:0025405	HP:0025405	Visual fixation instability	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1

Genes (9) :ASAH1 ASPA CLCN3 CLP1 ITPR1 PET100 RNF13 SLC39A8 VPS4A

Diseases (9) :ORPHA:333 ORPHA:314911 OMIM:619517 ORPHA:411493 ORPHA:208513 OMIM:619055 ORPHA:544503 ORPHA:468699 OMIM:619273

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

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