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
..Facial erythema (HP:0001041)

Term ID:

1041

Name:

Facial erythema

Synonym:

Blushed cheeks; Blushing; Red face; Red in the face; Rosacea; Ruddy face

Definition:

Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.

Comments:

Reference:

HP:0001041

Genes and Diseases:

Child Nodes:

Sister Nodes:

Erythema migrans (HP:0031180)

Erythema of the eyelids (HP:0040323)

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:0001041	HP:0001041	Facial erythema	0	ADGRE2 CL E G H	30817	3337	OMIM:125630	Dermodistortive urticaria	.	2
HP:0001041	HP:0001041	Facial erythema	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0001041	HP:0001041	Facial erythema	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040282 - Frequent	2
HP:0001041	HP:0001041	Facial erythema	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0001041	HP:0001041	Facial erythema	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0001041	HP:0001041	Facial erythema	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001041	HP:0001041	Facial erythema	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040282 - Frequent	528
HP:0001041	HP:0001041	Facial erythema	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0001041	HP:0001041	Facial erythema	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040282 - Frequent	445
HP:0001041	HP:0001041	Facial erythema	0	RHOH CL E G H	399	686	OMIM:618307	Epidermodysplasia verruciformis, susceptibility to, 4	.
HP:0001041	HP:0001041	Facial erythema	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7

Genes (11) :ADGRE2 AIP ANAPC1 BLM GJA1 GNB2 KCNQ2 MBTPS2 RECQL4 RHOH USP8

Diseases (10) :OMIM:125630 OMIM:219090 ORPHA:221008 OMIM:210900 ORPHA:1010 OMIM:619503 ORPHA:439218 OMIM:308800 ORPHA:221016 OMIM:618307

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

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