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:
Localized skin lesion (HP:0011355)

Parent Node:
Skin plaque (HP:0200035)

..Starting node
..Urticarial plaque (HP:0030351)

Term ID:

30351

Name:

Urticarial plaque

Synonym:

Definition:

A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.

Comments:

Reference:

HP:0030351

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cutaneous sclerotic plaque (HP:0031359)

Erythematous plaque (HP:0025474)

Yellow skin plaque (HP:0031360)

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:0030351	HP:0030351	Urticarial plaque	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome	22

Genes (1) :ADA2

Diseases (1) :OMIM:615688

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