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

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

Parent Node:
Biliary atresia (HP:0005912)

..Starting node
..Extrahepatic biliary duct atresia (HP:0005242)

Term ID:

5242

Name:

Extrahepatic biliary duct atresia

Synonym:

Biliary atresia, extrahepatic

Definition:

Atresia in the extrahepatic bile duct.

Comments:

Reference:

HP:0005242

Genes and Diseases:

Child Nodes:

Sister Nodes:

Intrahepatic biliary atresia (HP:0005248)

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:0005242	HP:0005242	Extrahepatic biliary duct atresia	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040283 - Occasional	8

Genes (1) :LONP1

Diseases (1) :ORPHA:1458

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