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:
Biliary tract abnormality (HP:0001080)

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

..Starting node
..Biliary atresia (HP:0005912)

Term ID:

5912

Name:

Biliary atresia

Synonym:

Biliary duct atresia

Definition:

Atresia of the biliary tree.

Comments:

Reference:

HP:0005912

Genes and Diseases:

Child Nodes:

........

Extrahepatic biliary duct atresia (HP:0005242)

........

Intrahepatic biliary atresia (HP:0005248)

Sister Nodes:

Abnormal intrahepatic bile duct morphology (HP:0011040)

Abnormality of the ductus choledochus (HP:0100889)

Bile duct proliferation (HP:0001408)

Biliary cirrhosis (HP:0002613)

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:0005912	HP:0005912	Biliary atresia	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0005912	HP:0005912	Biliary atresia	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.	158
HP:0005912	HP:0005912	Biliary atresia	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0005912	HP:0005912	Biliary atresia	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0005912	HP:0005912	Biliary atresia	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0005912	HP:0005912	Biliary atresia	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome		8
HP:0005912	HP:0005912	Biliary atresia	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0005912	HP:0005912	Biliary atresia	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0005912	HP:0005912	Biliary atresia	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0005912	HP:0005912	Biliary atresia	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0005912	HP:0005912	Biliary atresia	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0005912	HP:0005912	Biliary atresia	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.	39
HP:0005912	HP:0005248	Intrahepatic biliary atresia	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	247
HP:0005912	HP:0005248	Intrahepatic biliary atresia	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	111
HP:0005912	HP:0005242	Extrahepatic biliary duct atresia	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040283 - Occasional	8
HP:0005912	HP:0005248	Intrahepatic biliary atresia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	167
HP:0005912	HP:0005248	Intrahepatic biliary atresia	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0005912	HP:0005248	Intrahepatic biliary atresia	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	166
HP:0005912	HP:0005248	Intrahepatic biliary atresia	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63

Genes (11) :CC2D2A ERCC4 GATA6 INPP5E LONP1 RFX6 RPGRIP1L TCTN3 TMEM67 VPS33B ZIC3

Diseases (9) :ORPHA:1454 OMIM:615272 OMIM:600001 ORPHA:2255 ORPHA:1458 OMIM:615710 OMIM:614815 OMIM:208085 OMIM:306955

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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