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
..Eosinophilic liver infiltration (HP:0032021)

Term ID:

32021

Name:

Eosinophilic liver infiltration

Synonym:

Eosinophilic hepatitis

Definition:

Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.

Comments:

Reference:

HP:0032021

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:0032021	HP:0032021	Eosinophilic liver infiltration	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE	12

Genes (1) :JAK1

Diseases (1) :OMIM:618999

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