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
..Alternating exotropia (HP:0031717)

Term ID:

31717

Name:

Alternating exotropia

Synonym:

Alternating strabismus

Definition:

A type of exotropia in which either eye may be used for fixation.

Comments:

Reference:

HP:0031717

Genes and Diseases:

Child Nodes:

Sister Nodes:

Consecutive exotropia (HP:0031718)

Constant exotropia (HP:0031713)

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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031717	HP:0031717	Alternating exotropia	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	87
HP:0031717	HP:0031717	Alternating exotropia	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0031717	HP:0031717	Alternating exotropia	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0031717	HP:0031717	Alternating exotropia	0	H4C5 CL E G H	8367	4790	OMIM:619950

Genes (4) :ALDH3A2 FBXW11 GALNT2 H4C5

Diseases (4) :OMIM:270200 OMIM:618914 OMIM:618885 OMIM:619950

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