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
..Hypereosinophilia (HP:0032061)

Term ID:

32061

Name:

Hypereosinophilia

Synonym:

Definition:

A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter.

Comments:

Reference:

HP:0032061

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032061	HP:0032061	Hypereosinophilia	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0032061	HP:0032061	Hypereosinophilia	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0032061	HP:0032061	Hypereosinophilia	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0032061	HP:0032061	Hypereosinophilia	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0032061	HP:0032061	Hypereosinophilia	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0032061	HP:0032061	Hypereosinophilia	0	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY	.	1

Genes (6) :CARD9 EXTL3 IPO8 NLRP1 SPINK5 TRAC

Diseases (6) :OMIM:212050 ORPHA:508533 OMIM:619472 OMIM:617388 OMIM:256500 OMIM:615387

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