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:
Abnormal eye physiology (HP:0012373)

Parent Node:
Abnormality of eye movement (HP:0000496)

..Starting node
..Limited extraocular movements (HP:0007941)

Term ID:

7941

Name:

Limited extraocular movements

Synonym:

Limited extraocular movement

Definition:

Limited mobility of the eye within its socket.

Comments:

Reference:

HP:0007941

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal conjugate eye movement (HP:0000549)

Abnormal involuntary eye movements (HP:0012547)

Abnormal ocular alignment (HP:0500073)

Abnormal saccadic eye movements (HP:0000570)

Abnormal visual fixation (HP:0025404)

Abnormality of ocular abduction (HP:0011347)

Abnormality of ocular smooth pursuit (HP:0000617)

Compensatory head posture (HP:0031705)

Impaired ocular adduction (HP:0000542)

Marcus Gunn jaw winking synkinesis (HP:0025186)

Oculomotor apraxia (HP:0000657)

Ophthalmoparesis (HP:0000597)

Visual gaze preference (HP:0025518)

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:0007941	HP:0007941	Limited extraocular movements	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0007941	HP:0007941	Limited extraocular movements	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	90
HP:0007941	HP:0007941	Limited extraocular movements	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.	98
HP:0007941	HP:0007941	Limited extraocular movements	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	92
HP:0007941	HP:0007941	Limited extraocular movements	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	31
HP:0007941	HP:0007941	Limited extraocular movements	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0007941	HP:0007941	Limited extraocular movements	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	65
HP:0007941	HP:0007941	Limited extraocular movements	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		2
HP:0007941	HP:0007941	Limited extraocular movements	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.	40
HP:0007941	HP:0007941	Limited extraocular movements	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	40
HP:0007941	HP:0007941	Limited extraocular movements	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	73
HP:0007941	HP:0007941	Limited extraocular movements	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0007941	HP:0007941	Limited extraocular movements	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	HP:0040283 - Occasional	39
HP:0007941	HP:0007941	Limited extraocular movements	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.	2
HP:0007941	HP:0007941	Limited extraocular movements	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	HP:0040283 - Occasional	10
HP:0007941	HP:0025721	Limited vertical extraocular movement	1	CL E G H
HP:0007941	HP:0025720	Limited horizontal extraocular movement	1	CL E G H

Genes (14) :CHP1 COLQ HSD17B4 LAMB2 NDUFAF3 NDUFB8 NDUFS2 NKX6-2 SCO2 SURF1 SYT2 TUBB2B VAMP1 VMA21

Diseases (10) :OMIM:618438 ORPHA:98915 OMIM:233400 ORPHA:70474 OMIM:617560 OMIM:604377 OMIM:619461 OMIM:610031 OMIM:618323 OMIM:310440

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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