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:
Abnormality of the biliary system (HP:0004297)

Parent Node:
Biliary tract abnormality (HP:0001080)

..Starting node
..Abnormal biliary tract physiology (HP:0012439)

Term ID:

12439

Name:

Abnormal biliary tract physiology

Synonym:

Definition:

A functional abnormality of the biliary tree.

Comments:

Reference:

HP:0012439

Genes and Diseases:

Child Nodes:

........

Biliary dyskinesia (HP:0012396)

................... HP:0012441 Sphincter of Oddi dyskinesia
................... HP:0012442 Gallbladder dyskinesia

........

Hemobilia (HP:0100762)

Sister Nodes:

Abnormal biliary tract morphology (HP:0012440)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012439	HP:0012439	Abnormal biliary tract physiology	0	CL E G H
HP:0012439	HP:0100762	Hemobilia	1	CL E G H
HP:0012439	HP:0012396	Biliary dyskinesia	1	CL E G H
HP:0012439	HP:0012442	Gallbladder dyskinesia	2	CL E G H
HP:0012439	HP:0012441	Sphincter of Oddi dyskinesia	2	CL E G H

Genes (0) :

Diseases (0) :

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