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:
Exodeviation (HP:0020049)

Parent Node:
Exotropia (HP:0000577)

..Starting node
..Constant exotropia (HP:0031713)

Term ID:

31713

Name:

Constant exotropia

Synonym:

Definition:

A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.

Comments:

Reference:

HP:0031713

Genes and Diseases:

Child Nodes:

Sister Nodes:

Alternating exotropia (HP:0031717)

Consecutive exotropia (HP:0031718)

Cyclic exotropia (HP:0031716)

Distance exotropia (HP:0031714)

Near exotropia (HP:0031715)

obsolete Congenital exotropia (HP:0008033)

Sensory exotropia (HP:0031721)

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:0031713	HP:0031713	Constant exotropia	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0031713	HP:0032010	Basic constant exotropia	1	CL E G H
HP:0031713	HP:0032009	Infantile constant exotropia	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10

Genes (1) :NONO

Diseases (1) :ORPHA:466791

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