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:
Vascular skin abnormality (HP:0011276)

Parent Node:
Erythema (HP:0010783)

..Starting node
..Erythema migrans (HP:0031180)

Term ID:

31180

Name:

Erythema migrans

Synonym:

Erythema chronicum migrans

Definition:

An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).

Comments:

Reference:

HP:0031180

Genes and Diseases:

Child Nodes:

Sister Nodes:

Erythema of the eyelids (HP:0040323)

Facial erythema (HP:0001041)

Necrolytic migratory erythema (HP:0031181)

Palmoplantar erythema (HP:0025493)

Shawl sign (HP:0025535)

V-sign (HP:0025536)

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:0031180	HP:0031180	Erythema migrans	0	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema	HP:0040282 - Frequent	173
HP:0031180	HP:0031180	Erythema migrans	0	KRT5 CL E G H	3852	6442	OMIM:609352	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA		173

Genes (1) :KRT5

Diseases (2) :ORPHA:158681 OMIM:609352

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