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:
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:

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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0007941	HP:0007941	Limited extraocular movements	0	HSD17B4 CL E G H	3295	233400	Perrault syndrome 1	233400		OMIM	1	786	5213	601860
HP:0007941	HP:0007941	Limited extraocular movements	0	SCO2 CL E G H	9997	604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	604377	C1858424	OMIM	1	514	10604	604272
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007941	HP:0007941	Limited extraocular movements	0	COLQ CL E G H	8292	98915				ORPHA	0	465	2226	603033
HP:0007941	HP:0007941	Limited extraocular movements	0	LAMB2 CL E G H	3913	98915				ORPHA	0	677	6487	150325
HP:0007941	HP:0007941	Limited extraocular movements	0	TUBB2B CL E G H	347733	610031	Polymicrogyria, asymmetric	610031	C2750247	OMIM	0	169	30829	612850
HP:0007941	HP:0007941	Limited extraocular movements	0	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	0	239	22082	300913

Genes (6) :COLQ HSD17B4 LAMB2 SCO2 TUBB2B VMA21

Diseases (5) :98915 233400 604377 610031 310440

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.