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:
Abnormality of the skin (HP:0000951)

Parent Node:
Abnormality of skin physiology (HP:0011122)

..Starting node
..Harlequin phenomenon (HP:0025531)

Term ID:

25531

Name:

Harlequin phenomenon

Synonym:

Definition:

The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body.

Comments:

Reference:

HP:0025531

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired stimulus-induced skin wrinkling (HP:0030331)

Inflammatory abnormality of the skin (HP:0011123)

Positive pathergy test (HP:0025532)

Pruritus (HP:0000989)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025531	HP:0025531	Harlequin phenomenon	0	CL E G H

Genes (0) :

Diseases (0) :

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