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:
Abnormality of the orbital region (HP:0000315)

Grandparent Node:
obsolete Abnormal globe morphology (HP:0012374)

Parent Node:
Abnormality of globe location (HP:0100886)

..Starting node
..Vertical orbital dystopia (HP:0030867)

Term ID:

30867

Name:

Vertical orbital dystopia

Synonym:

Eyes at different heights; Misaligned eyes; Unequal eye height

Definition:

The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.

Comments:

Reference:

HP:0030867

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cyclopia (HP:0009914)

Deeply set eye (HP:0000490)

Hypertelorism (HP:0000316)

Hypotelorism (HP:0000601)

Proptosis (HP:0000520)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030867	HP:0030867	Vertical orbital dystopia	0	CL E G H

Genes (0) :

Diseases (0) :

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