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 biliary dysgenesis (HP:0001401)

Term ID:

1401

Name:

Intrahepatic biliary dysgenesis

Synonym:

Definition:

Comments:

Reference:

HP:0001401

Genes and Diseases:

Child Nodes:

Sister Nodes:

Interlobular bile duct destruction (HP:0025344)

Intrahepatic bile duct cysts (HP:0005209)

Intrahepatic biliary atresia (HP:0005248)

Reduced number of intrahepatic bile ducts (HP:0006571)

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:0001401	HP:0001401	Intrahepatic biliary dysgenesis	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0001401	HP:0001401	Intrahepatic biliary dysgenesis	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0001401	HP:0001401	Intrahepatic biliary dysgenesis	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99

Genes (3) :PEX1 PEX2 PEX5

Diseases (3) :OMIM:214100 OMIM:614866 OMIM:214110

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