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
..Accommodative esotropia (HP:0020046)

Term ID:

20046

Name:

Accommodative esotropia

Synonym:

Definition:

A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.

Comments:

Reference:

HP:0020046

Genes and Diseases:

Child Nodes:

........

Fully accomodative esotropia (HP:0031764)

........

Partially accomodative esotropia (HP:0031765)

........

Convergence excess esotropia (HP:0031766)

Sister Nodes:

Alternating esotropia (HP:0001137)

Consecutive esotropia (HP:0031767)

Non-accomodative esotropia (HP:0031760)

Secondary esotropia (HP:0031723)

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:0020046	HP:0020046	Accommodative esotropia	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0020046	HP:0020046	Accommodative esotropia	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0020046	HP:0020046	Accommodative esotropia	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0020046	HP:0031765	Partially accomodative esotropia	1	CL E G H
HP:0020046	HP:0031764	Fully accomodative esotropia	1	CL E G H
HP:0020046	HP:0031766	Convergence excess esotropia	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228

Genes (3) :ARPC4 MED12 TBX1

Diseases (3) :OMIM:620141 OMIM:301068 OMIM:188400

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