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:
Abnormal eyelid morphology (HP:0000492)

Parent Node:
Eyelid retraction (HP:0500043)

..Starting node
..Upper eyelid retraction (HP:0500044)

Term ID:

500044

Name:

Upper eyelid retraction

Synonym:

Definition:

An elevation of the eyelid above the normal level in the primary position.

Comments:

Reference:

HP:0500044

Genes and Diseases:

Child Nodes:

........

Collier's sign (HP:0500045)

Sister Nodes:

Lower eyelid retraction (HP:0030802)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0500044	HP:0500044	Upper eyelid retraction	0	CL E G H
HP:0500044	HP:0500045	Collier's sign	1	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.