Human Phenotype Ontology

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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

Grandparent Node:
Abnormal liver morphology (HP:0410042)

Parent Node:
Hepatic fibrosis (HP:0001395)

..Starting node
..Hepatic bridging fibrosis (HP:0012852)

Term ID:

12852

Name:

Hepatic bridging fibrosis

Synonym:

Definition:

Hepatic fibrosis that reaches from a portal area to another portal area.

Comments:

Reference:

HP:0012852

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital hepatic fibrosis (HP:0002612)

Periportal fibrosis (HP:0001405)

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:0012852	HP:0012852	Hepatic bridging fibrosis	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47	5
HP:0012852	HP:0012852	Hepatic bridging fibrosis	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	57
HP:0012852	HP:0012852	Hepatic bridging fibrosis	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	8
HP:0012852	HP:0012852	Hepatic bridging fibrosis	0	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS	3
HP:0012852	HP:0012852	Hepatic bridging fibrosis	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8	1
HP:0012852	HP:0012852	Hepatic bridging fibrosis	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency	73
HP:0012852	HP:0012852	Hepatic bridging fibrosis	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3	99
HP:0012852	HP:0012852	Hepatic bridging fibrosis	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0012852	HP:0012852	Hepatic bridging fibrosis	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7

Genes (9) :ATP6AP1 CYP7B1 DCDC2 FADD KIF12 LIPA RINT1 TULP3 USP53

Diseases (9) :OMIM:300972 OMIM:613812 OMIM:617394 OMIM:613759 OMIM:619662 OMIM:278000 OMIM:618641 OMIM:619902 OMIM:619658

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

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