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
..Abnormality of ocular abduction (HP:0011347)

Term ID:

11347

Name:

Abnormality of ocular abduction

Synonym:

Definition:

An abnormality involving the movement of the eye outwards.

Comments:

Reference:

HP:0011347

Genes and Diseases:

Child Nodes:

........

Globe retraction and deviation on abduction (HP:0000497)

........

Impaired ocular abduction (HP:0000634)

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 smooth pursuit (HP:0000617)

Compensatory head posture (HP:0031705)

Impaired ocular adduction (HP:0000542)

Limited extraocular movements (HP:0007941)

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	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0011347	HP:0011347	Abnormality of ocular abduction	0	GRM1 CL E G H	2911	324262	ORPHA	1	298	4593	604473
HP:0011347	HP:0000634	Impaired ocular abduction	1	GRM1 CL E G H	2911	324262	ORPHA	1	298	4593	604473
HP:0011347	HP:0000497	Globe retraction and deviation on abduction	1	GRM1 CL E G H	2911	324262	ORPHA	1	298	4593	604473
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (4) :GRM1 MAFB MYMK SALL4

Diseases (4) :324262 617041 1358 607323

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