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:
Biliary tract abnormality (HP:0001080)

Parent Node:
Abnormal biliary tract morphology (HP:0012440)

..Starting node
..Biliary cirrhosis (HP:0002613)

Term ID:

2613

Name:

Biliary cirrhosis

Synonym:

Primary biliary cirrhosis

Definition:

Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.

Comments:

Reference:

HP:0002613

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal intrahepatic bile duct morphology (HP:0011040)

Abnormality of the ductus choledochus (HP:0100889)

Bile duct proliferation (HP:0001408)

Biliary atresia (HP:0005912)

Biliary epithelial hyperplasia (HP:0030986)

Biliary hyperplasia (HP:0006560)

Biliary tract neoplasm (HP:0100574)

Biliary tract obstruction (HP:0005230)

Cholangitis (HP:0030151)

Portosystemic collateral veins (HP:0025154)

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:0002613	HP:0002613	Biliary cirrhosis	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040284 - Very rare	111
HP:0002613	HP:0002613	Biliary cirrhosis	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.	1371
HP:0002613	HP:0002613	Biliary cirrhosis	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.	8
HP:0002613	HP:0002613	Biliary cirrhosis	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.	6
HP:0002613	HP:0002613	Biliary cirrhosis	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002613	HP:0002613	Biliary cirrhosis	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	46
HP:0002613	HP:0002613	Biliary cirrhosis	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	4
HP:0002613	HP:0002613	Biliary cirrhosis	0	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0002613	HP:0002613	Biliary cirrhosis	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0002613	HP:0002613	Biliary cirrhosis	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002613	HP:0002613	Biliary cirrhosis	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0002613	HP:0002613	Biliary cirrhosis	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0002613	HP:0002613	Biliary cirrhosis	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040284 - Very rare	563
HP:0002613	HP:0002613	Biliary cirrhosis	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002613	HP:0002613	Biliary cirrhosis	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002613	HP:0002613	Biliary cirrhosis	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.	13
HP:0002613	HP:0002613	Biliary cirrhosis	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002613	HP:0002613	Biliary cirrhosis	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	71
HP:0002613	HP:0002613	Biliary cirrhosis	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002613	HP:0002613	Biliary cirrhosis	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136

Genes (19) :ABCB4 CFTR DCDC2 FCGR2A IL12A IL12RB1 IRF5 KRT18 LBR MMEL1 NPHP3 PKHD1 POU2AF1 SPIB TGFB1 TNFSF15 TNPO3 TTC26 WDR35

Diseases (11) :ORPHA:69663 OMIM:219700 OMIM:617394 ORPHA:186 OMIM:215600 OMIM:613471 OMIM:267010 OMIM:208540 ORPHA:53035 OMIM:619534 OMIM:613610

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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