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
..Palmoplantar erythema (HP:0025493)

Term ID:

25493

Name:

Palmoplantar erythema

Synonym:

Definition:

Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.

Comments:

Reference:

HP:0025493

Genes and Diseases:

Child Nodes:

Sister Nodes:

Erythema migrans (HP:0031180)

Erythema of the eyelids (HP:0040323)

Facial erythema (HP:0001041)

Necrolytic migratory erythema (HP:0031181)

Shawl sign (HP:0025535)

V-sign (HP:0025536)

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:0025493	HP:0025493	Palmoplantar erythema	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome	747
HP:0025493	HP:0025493	Palmoplantar erythema	0	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia	68
HP:0025493	HP:0025493	Palmoplantar erythema	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	39
HP:0025493	HP:0025493	Palmoplantar erythema	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	34
HP:0025493	HP:0025493	Palmoplantar erythema	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	71

Genes (5) :DSP GJA1 GJA5 GJA8 WNT10A

Diseases (4) :OMIM:607655 OMIM:104100 OMIM:612474 OMIM:257980

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