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
..Lower eyelid retraction (HP:0030802)

Term ID:

30802

Name:

Lower eyelid retraction

Synonym:

Definition:

Inferior malposition of the lower eyelid margin without eyelid eversion.

Comments:

Reference:

HP:0030802

Genes and Diseases:

Child Nodes:

Sister Nodes:

Upper eyelid retraction (HP:0500044)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030802	HP:0030802	Lower eyelid retraction	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism	177

Genes (1) :SH3BP2

Diseases (1) :OMIM:118400

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