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 eye movement (HP:0000496)

Parent Node:
Abnormality of ocular abduction (HP:0011347)

..Starting node
..Impaired ocular abduction (HP:0000634)

Term ID:

634

Name:

Impaired ocular abduction

Synonym:

Definition:

An impaired ability of the eye to move in the outward direction (towards the side of the head).

Comments:

Reference:

HP:0000634

Genes and Diseases:

Child Nodes:

Sister Nodes:

Globe retraction and deviation on abduction (HP:0000497)

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:0000634	HP:0000634	Impaired ocular abduction	0	MAFB CL E G H	9935	617041	Duane retraction syndrome 3 with or without deafness	617041	C4310752	OMIM	1	105	6408	608968
HP:0000634	HP:0000634	Impaired ocular abduction	0	MAFB CL E G H	9935	617041	Duane retraction syndrome 3 with or without deafness	617041	C4310752	OMIM	1	112	6408	608968
HP:0000634	HP:0000634	Impaired ocular abduction	0	MYMK CL E G H	389827	1358				ORPHA	1	77	33778	615345
HP:0000634	HP:0000634	Impaired ocular abduction	0	SALL4 CL E G H	57167	607323	Duane-radial ray syndrome	607323	C1623209	OMIM	1	198	15924	607343
HP:0000634	HP:0000634	Impaired ocular abduction	0	SALL4 CL E G H	57167	607323	Duane-radial ray syndrome	607323	C1623209	OMIM	1	178	15924	607343
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (3) :MAFB MYMK SALL4

Diseases (3) :617041 1358 607323

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