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:
Cholestasis (HP:0001396)

Grandparent Node:
Dermatological manifestations of systemic disorders (HP:0001005)

Parent Node:
Jaundice (HP:0000952)

..Starting node
..Prolonged neonatal jaundice (HP:0006579)

Term ID:

6579

Name:

Prolonged neonatal jaundice

Synonym:

Jaundice, neonatal; Neonatal jaundice; Prolonged yellowing of skin in newborn

Definition:

Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.

Comments:

Reference:

HP:0006579

Genes and Diseases:

Child Nodes:

Sister Nodes:

Intermittent jaundice (HP:0001046)

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:0006579	HP:0006579	Prolonged neonatal jaundice	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.	129
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.	44
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	1
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent	192
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO	.	3
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.	86
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.	72
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	121
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional	121
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	11
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	6
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency	.	23
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	GALM CL E G H	130589	24063	OMIM:618881	GALACTOSEMIA IV; GALAC4
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	5
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	130
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	544
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040282 - Frequent	51
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040283 - Occasional	49
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	60
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional	57
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	59
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	228
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	156
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040282 - Frequent	57
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	155
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency		28
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	92
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.	56
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040282 - Frequent	97
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040281 - Very frequent	73
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2	HP:0040281 - Very frequent	73
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0006579	HP:0006579	Prolonged neonatal jaundice	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2

Genes (73) :ADAMTS13 ADAR AKR1D1 AMACR APC2 ARL13B ATP6AP1 ATP7A CASK CCDC115 CDAN1 CPOX CTCF CYP27A1 DUOX2 DUOXA2 EPB41 G6PD GALK1 GALM GH1 GYPC HESX1 HYOU1 IFIH1 IYD JAG1 KMT2E LHX3 LHX4 LSM11 MED12 MPV17 NPC1 NPC2 NSD1 PARS2 PEPD PEX1 PEX10 PKLR POU1F1 PROP1 PRPS1 RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 SAMHD1 SETD2 SLC10A1 SLC16A2 SLC37A4 SLC44A1 SLC51B SLC5A5 SMPD1 SPOP SPTA1 SPTB TBX19 TG TPI1 TPO TREX1 TRHR TSHB TSHR TTC26 UGT1A1 UNC45A YARS1

Diseases (55) :OMIM:274150 ORPHA:51 ORPHA:79303 OMIM:214950 ORPHA:821 OMIM:612291 OMIM:300972 ORPHA:565 OMIM:300908 OMIM:616828 OMIM:224120 OMIM:618892 ORPHA:363611 ORPHA:909 ORPHA:95716 ORPHA:226316 ORPHA:288 OMIM:230200 OMIM:618881 OMIM:262400 ORPHA:226307 OMIM:233600 OMIM:118450 OMIM:618512 OMIM:301068 OMIM:256810 OMIM:257220 OMIM:607625 OMIM:117550 OMIM:618437 OMIM:170100 OMIM:214100 OMIM:614871 ORPHA:766 OMIM:613038 ORPHA:423479 OMIM:210710 OMIM:619256 ORPHA:59 OMIM:619525 OMIM:618868 OMIM:619481 OMIM:257200 OMIM:618828 ORPHA:199296 OMIM:615512 OMIM:225750 ORPHA:99832 ORPHA:90674 ORPHA:90673 OMIM:619534 ORPHA:79234 ORPHA:79235 OMIM:619377 OMIM:619418

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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