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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Hyperbilirubinemia (HP:0002904)

..Starting node
..Neonatal unconjugated hyperbilirubinemia (HP:0008176)

Term ID:

8176

Name:

Neonatal unconjugated hyperbilirubinemia

Synonym:

Definition:

Comments:

Reference:

HP:0008176

Genes and Diseases:

Child Nodes:

Sister Nodes:

Conjugated hyperbilirubinemia (HP:0002908)

Increased total bilirubin (HP:0003573)

Neonatal hyperbilirubinemia (HP:0003265)

Unconjugated hyperbilirubinemia (HP:0008282)

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:0008176	HP:0008176	Neonatal unconjugated hyperbilirubinemia	0	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal	.	73

Genes (1) :UGT1A1

Diseases (1) :OMIM:237900

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