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
..Conjugated hyperbilirubinemia (HP:0002908)

Term ID:

2908

Name:

Conjugated hyperbilirubinemia

Synonym:

Direct hyperbilirubinemia

Definition:

Comments:

Reference:

HP:0002908

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased total bilirubin (HP:0003573)

Neonatal hyperbilirubinemia (HP:0003265)

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:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2	.	146
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome	.	119
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040281 - Very frequent	119
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.	144
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	46
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	4
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040282 - Frequent	563
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.	78
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional	255
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic	.	52
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome	HP:0040281 - Very frequent	52
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic	.	60
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome	HP:0040281 - Very frequent	60
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	71
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0002908	HP:0002908	Conjugated hyperbilirubinemia	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63

Genes (26) :ABCB11 ABCC2 AKR1D1 ATP8B1 BAAT GLRX5 IL12A IL12RB1 IRF5 KIF12 MMEL1 MYO5B NR1H4 PKHD1 POU2AF1 SLC17A5 SLC2A1 SLC51A SLCO1B1 SLCO1B3 SPIB TNFSF15 TNPO3 TTC26 VIPAS39 VPS33B

Diseases (23) :OMIM:605479 OMIM:601847 OMIM:237500 ORPHA:234 ORPHA:79303 OMIM:243300 OMIM:211600 OMIM:619232 OMIM:616860 ORPHA:186 OMIM:619662 OMIM:619868 OMIM:617049 ORPHA:53035 OMIM:269920 ORPHA:168577 OMIM:619484 OMIM:237450 ORPHA:3111 OMIM:619534 OMIM:613404 OMIM:620010 OMIM:208085

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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