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 physiology (HP:0012439)

Parent Node:
Biliary dyskinesia (HP:0012396)

..Starting node
..Sphincter of Oddi dyskinesia (HP:0012441)

Term ID:

12441

Name:

Sphincter of Oddi dyskinesia

Synonym:

Sphincter of Oddi dysfunction

Definition:

Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.

Comments:

Reference:

HP:0012441

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gallbladder dyskinesia (HP:0012442)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012441	HP:0012441	Sphincter of Oddi dyskinesia	0	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.