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:
Abnormal biliary tract morphology (HP:0012440)

Parent Node:
Abnormal intrahepatic bile duct morphology (HP:0011040)

Parent Node:
Biliary atresia (HP:0005912)

..Starting node
..Intrahepatic biliary atresia (HP:0005248)

Term ID:

5248

Name:

Intrahepatic biliary atresia

Synonym:

Bile duct paucity; Intrahepatic atresia of biliary duct

Definition:

Atresia in the intrahepatic bile duct.

Comments:

Reference:

HP:0005248

Genes and Diseases:

Child Nodes:

Sister Nodes:

Extrahepatic biliary duct atresia (HP:0005242)

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:0005248	HP:0005248	Intrahepatic biliary atresia	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	247
HP:0005248	HP:0005248	Intrahepatic biliary atresia	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	111
HP:0005248	HP:0005248	Intrahepatic biliary atresia	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	167
HP:0005248	HP:0005248	Intrahepatic biliary atresia	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0005248	HP:0005248	Intrahepatic biliary atresia	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	166
HP:0005248	HP:0005248	Intrahepatic biliary atresia	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63

Genes (6) :CC2D2A INPP5E RPGRIP1L TCTN3 TMEM67 VPS33B

Diseases (3) :ORPHA:1454 OMIM:614815 OMIM:208085

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