Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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
..Portal inflammation (HP:0033196)

Term ID:

33196

Name:

Portal inflammation

Synonym:

Hepatic portal inflammation

Definition:

Infiltration of portal fields by inflammatory cells.

Comments:

Reference:

HP:0033196

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:0033196	HP:0033196	Portal inflammation	0	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	111
HP:0033196	HP:0033196	Portal inflammation	0	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS	3
HP:0033196	HP:0033196	Portal inflammation	0	FOCAD CL E G H	54914	23377	OMIM:619991		3
HP:0033196	HP:0033196	Portal inflammation	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR	228
HP:0033196	HP:0033196	Portal inflammation	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	82

Genes (5) :ABCB4 FADD FOCAD MED12 SLC25A13

Diseases (5) :OMIM:600803 OMIM:613759 OMIM:619991 OMIM:301068 OMIM:603471

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