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 cornea morphology (HP:0000481)

Parent Node:
Abnormal corneal limbus morphology (HP:0025348)

..Starting node
..Limbal edema (HP:0025349)

Term ID:

25349

Name:

Limbal edema

Synonym:

Limbal oedema

Definition:

Swelling of the margin of the cornea overlapped by the sclera.

Comments:

Reference:

HP:0025349

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0025349	HP:0025349	Limbal edema	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent	64

Genes (1) :SERPING1

Diseases (1) :ORPHA:100050

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