Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 hyperbilirubinemia (HP:0003265)

Term ID:

3265

Name:

Neonatal hyperbilirubinemia

Synonym:

High blood bilirubin levels in neonate; Hyperbilirubinemia, neonatal

Definition:

A type of hyperbilirubinemia with neonatal onset.

Comments:

Reference:

HP:0003265

Genes and Diseases:

Child Nodes:

Sister Nodes:

Conjugated hyperbilirubinemia (HP:0002908)

Increased total bilirubin (HP:0003573)

Neonatal unconjugated hyperbilirubinemia (HP:0008176)

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:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.	72
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	121
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	11
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	6
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency	.	1
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	5
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040282 - Frequent	91
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	130
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	3
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional	231
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	36
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	109
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	59
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2		228
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	228
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	156
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	155
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	92
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional	97
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040281 - Very frequent	73
HP:0003265	HP:0003265	Neonatal hyperbilirubinemia	0	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2	HP:0040281 - Very frequent	73

Genes (23) :CPOX DUOX2 DUOXA2 EPB41 FBP1 GPX1 GYPC IGF1 IYD KCNN4 PAFAH1B1 PIEZO1 SLC35A2 SLC4A1 SLC5A5 SPTA1 SPTB TG TPO TSHB TSHR UBE2A UGT1A1

Diseases (15) :OMIM:618892 ORPHA:95716 ORPHA:288 ORPHA:348 OMIM:614164 ORPHA:73272 ORPHA:3202 ORPHA:95232 OMIM:300896 OMIM:130600 ORPHA:90674 ORPHA:90673 ORPHA:163956 ORPHA:79234 ORPHA:79235

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

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