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
..Reduced number of intrahepatic bile ducts (HP:0006571)

Term ID:

6571

Name:

Reduced number of intrahepatic bile ducts

Synonym:

Hepatic ductopenia; Intrahepatic duct deficiency

Definition:

The presence of reduced numbers of intrahepatic bile duct than normal.

Comments:

Reference:

HP:0006571

Genes and Diseases:

Child Nodes:

Sister Nodes:

Interlobular bile duct destruction (HP:0025344)

Intrahepatic bile duct cysts (HP:0005209)

Intrahepatic biliary atresia (HP:0005248)

Intrahepatic biliary dysgenesis (HP:0001401)

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:0006571	HP:0006571	Reduced number of intrahepatic bile ducts	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0006571	HP:0006571	Reduced number of intrahepatic bile ducts	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0006571	HP:0006571	Reduced number of intrahepatic bile ducts	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040283 - Occasional	46
HP:0006571	HP:0006571	Reduced number of intrahepatic bile ducts	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166

Genes (4) :DCDC2 JAG1 LMBRD1 TMEM67

Diseases (3) :ORPHA:84081 OMIM:118450 ORPHA:79284

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