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 physiology (HP:0012439)

..Starting node
..Biliary dyskinesia (HP:0012396)

Term ID:

12396

Name:

Biliary dyskinesia

Synonym:

Definition:

A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction.

Comments:

Reference:

HP:0012396

Genes and Diseases:

Child Nodes:

........

Sphincter of Oddi dyskinesia (HP:0012441)

........

Gallbladder dyskinesia (HP:0012442)

Sister Nodes:

Hemobilia (HP:0100762)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012396	HP:0012396	Biliary dyskinesia	0	CL E G H
HP:0012396	HP:0012442	Gallbladder dyskinesia	1	CL E G H
HP:0012396	HP:0012441	Sphincter of Oddi dyskinesia	1	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.