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:
Strabismus (HP:0000486)

Parent Node:
Hypodeviation (HP:0025588)

..Starting node
..Hypotropia (HP:0025584)

Term ID:

25584

Name:

Hypotropia

Synonym:

Definition:

A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.

Comments:

Reference:

HP:0025584

Genes and Diseases:

Child Nodes:

........

Alternating hypotropia (HP:0500078)

Sister Nodes:

Hypophoria (HP:0031725)

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:0025584	HP:0025584	Hypotropia	0	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies	.
HP:0025584	HP:0025584	Hypotropia	0	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2	.	6
HP:0025584	HP:0500078	Alternating hypotropia	1	CL E G H

Genes (2) :MYF5 PHOX2A

Diseases (2) :OMIM:618155 OMIM:602078

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