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:
Cholestasis (HP:0001396)

Parent Node:
Cholestatic liver disease (HP:0002611)

..Starting node
..Neonatal cholestatic liver disease (HP:0006566)

Term ID:

6566

Name:

Neonatal cholestatic liver disease

Synonym:

Definition:

Comments:

Reference:

HP:0006566

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0006566	HP:0006566	Neonatal cholestatic liver disease	0	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040281 - Very frequent	26

Genes (1) :HSD3B7

Diseases (1) :ORPHA:79301

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