Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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)

Grandparent Node:
Periorbital edema (HP:0100539)

Parent Node:
Palpebral edema (HP:0100540)

..Starting node
..Upper eyelid edema (HP:0012724)

Term ID:

12724

Name:

Upper eyelid edema

Synonym:

Cellulitis of upper eyelid; Fullness of upper eyelid; Puffiness of upper eyelid; Swelling of upper eyelid; Upper eyelid oedema

Definition:

Edema in the region of the upper eyelid.

Comments:

Reference:

HP:0012724

Genes and Diseases:

Child Nodes:

Sister Nodes:

Blepharochalasis (HP:0010749)

Lower eyelid edema (HP:0012568)

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:0012724	HP:0012724	Upper eyelid edema	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0012724	HP:0012724	Upper eyelid edema	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0012724	HP:0012724	Upper eyelid edema	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0012724	HP:0012724	Upper eyelid edema	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent	43
HP:0012724	HP:0012724	Upper eyelid edema	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68

Genes (5) :FRMD4A KAT6A MED12L RIN2 SLC29A3

Diseases (5) :OMIM:616819 OMIM:616268 OMIM:618872 ORPHA:217335 ORPHA:168569

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