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:
Abnormal conjugate eye movement (HP:0000549)

..Starting node
..Impaired convergence (HP:0000619)

Term ID:

619

Name:

Impaired convergence

Synonym:

Convergence insufficiency

Definition:

Reduced ability to turn the eyes inward in order to focus on a nearby object.

Comments:

Reference:

HP:0000619

Genes and Diseases:

Child Nodes:

Sister Nodes:

Strabismus (HP:0000486)

Supranuclear gaze palsy (HP:0000605)

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:0000619	HP:0000619	Impaired convergence	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86

Genes (1) :SALL4

Diseases (1) :OMIM:607323

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.