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)

..Starting node
..Intrahepatic bile duct cysts (HP:0005209)

Term ID:

5209

Name:

Intrahepatic bile duct cysts

Synonym:

Definition:

The presence of cyst of the intrahepatic bile duct.

Comments:

Reference:

HP:0005209

Genes and Diseases:

Child Nodes:

Sister Nodes:

Interlobular bile duct destruction (HP:0025344)

Intrahepatic biliary atresia (HP:0005248)

Intrahepatic biliary dysgenesis (HP:0001401)

Reduced number of intrahepatic bile ducts (HP:0006571)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005209	HP:0005209	Intrahepatic bile duct cysts	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR	228

Genes (1) :MED12

Diseases (1) :OMIM:301068

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