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:
Inflammatory abnormality of the skin (HP:0011123)

Parent Node:
Eczema (HP:0000964)

..Starting node
..Perioral eczema (HP:0011127)

Term ID:

11127

Name:

Perioral eczema

Synonym:

Eczema around the mouth

Definition:

A type of eczema that occurs in the lips and perioral area.

Comments:

Reference:

HP:0011127

Genes and Diseases:

Child Nodes:

Sister Nodes:

Eczematoid dermatitis (HP:0000976)

Seborrheic dermatitis (HP:0001051)

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:0011127	HP:0011127	Perioral eczema	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040281 - Very frequent	148
HP:0011127	HP:0011127	Perioral eczema	0	NCF4 CL E G H	4689	7662	OMIM:613960	Chronic granulomatous disease 3, autosomal recessive	.	37

Genes (2) :HLCS NCF4

Diseases (2) :ORPHA:79242 OMIM:613960

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