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:
Esodeviation (HP:0020045)

Parent Node:
Esotropia (HP:0000565)

..Starting node
..Secondary esotropia (HP:0031723)

Term ID:

31723

Name:

Secondary esotropia

Synonym:

Sensory esotropia

Definition:

Convergent squint which follows loss or impairment of vision.

Comments:

Reference:

HP:0031723

Genes and Diseases:

Child Nodes:

Sister Nodes:

Accommodative esotropia (HP:0020046)

Alternating esotropia (HP:0001137)

Consecutive esotropia (HP:0031767)

Non-accomodative esotropia (HP:0031760)

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:0031723	HP:0031723	Secondary esotropia	0	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1	.	93

Genes (1) :KIF21A

Diseases (1) :OMIM:135700

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