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

..Starting node
..Perioral erythema (HP:0033194)

Term ID:

33194

Name:

Perioral erythema

Synonym:

Definition:

Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.

Comments:

Reference:

HP:0033194

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0033194	HP:0033194	Perioral erythema	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1	2
HP:0033194	HP:0033194	Perioral erythema	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	55
HP:0033194	HP:0033194	Perioral erythema	0	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease	15
HP:0033194	HP:0033194	Perioral erythema	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2	1

Genes (4) :ADAM17 SLC39A4 SLURP1 SREBF1

Diseases (4) :OMIM:614328 OMIM:201100 OMIM:248300 OMIM:619016

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