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 the eye (HP:0000478)

Parent Node:
Abnormal eye physiology (HP:0012373)

..Starting node
..Staring gaze (HP:0025401)

Term ID:

25401

Name:

Staring gaze

Synonym:

Staring eyes

Definition:

An abnormality in which the eyes are held permanently wide open.

Comments:

Reference:

HP:0025401

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal extraocular muscle physiology (HP:0025590)

Abnormal eyelid physiology (HP:0031879)

Abnormal intraocular pressure (HP:0012632)

Abnormal pupillary function (HP:0007686)

Abnormal visual accommodation (HP:0030800)

Abnormal visual electrophysiology (HP:0030453)

Abnormality of eye movement (HP:0000496)

Abnormality of refraction (HP:0000539)

Abnormality of vision (HP:0000504)

Asthenopia (HP:0031590)

Congenital stationary cone dysfunction (HP:0030637)

Glaucoma (HP:0000501)

Hemorrhage of the eye (HP:0011885)

Inflammatory abnormality of the eye (HP:0100533)

Lacrimation abnormality (HP:0000632)

Ocular pain (HP:0200026)

Ptosis (HP:0000508)

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:0025401	HP:0025401	Staring gaze	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0025401	HP:0025401	Staring gaze	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	127
HP:0025401	HP:0025401	Staring gaze	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent	19
HP:0025401	HP:0025401	Staring gaze	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	65
HP:0025401	HP:0025401	Staring gaze	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	6
HP:0025401	HP:0025401	Staring gaze	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent	12
HP:0025401	HP:0025401	Staring gaze	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0025401	HP:0025401	Staring gaze	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0025401	HP:0025401	Staring gaze	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0025401	HP:0025401	Staring gaze	0	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional	66
HP:0025401	HP:0025401	Staring gaze	0	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional	94
HP:0025401	HP:0025401	Staring gaze	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0025401	HP:0025401	Staring gaze	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	28
HP:0025401	HP:0025401	Staring gaze	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent	1
HP:0025401	HP:0025401	Staring gaze	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	9
HP:0025401	HP:0025401	Staring gaze	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0025401	HP:0025401	Staring gaze	0	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	.	9
HP:0025401	HP:0025401	Staring gaze	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	4
HP:0025401	HP:0025401	Staring gaze	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2

Genes (19) :AARS2 AGRN ATXN1 CHAT COL13A1 HTT MYO9A NEXMIF NGLY1 PNKD PRRT2 SLC18A3 SLC25A1 SLC2A3 SLC5A7 SNAP25 SYNJ1 SYT2 VAMP1

Diseases (8) :OMIM:614096 ORPHA:98914 ORPHA:98755 ORPHA:399 OMIM:300912 ORPHA:404454 ORPHA:98810 OMIM:615530

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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