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:
Abnormal circulating monocarboxylic acid concentration (HP:0010996)

Parent Node:
Abnormal serum bile acid concentration (HP:0030984)

..Starting node
..Increased serum bile acid concentration (HP:0012202)

Term ID:

12202

Name:

Increased serum bile acid concentration

Synonym:

Definition:

An increase in the concentration of bile acid in the blood.

Comments:

Reference:

HP:0012202

Genes and Diseases:

Child Nodes:

........

Increased serum bile acid concentration during pregnancy (HP:0200150)

Sister Nodes:

Decreased serum bile acid concentration (HP:0030985)

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:0012202	HP:0012202	Increased serum bile acid concentration	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040281 - Very frequent	146
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3		111
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040281 - Very frequent	111
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.	144
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1		144
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040281 - Very frequent	144
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040281 - Very frequent	14
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	SEMA7A CL E G H	8482	10741	OMIM:619874			5
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040281 - Very frequent	34
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial	.	149
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0012202	HP:0012202	Increased serum bile acid concentration	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0012202	HP:0200150	Increased serum bile acid concentration during pregnancy	1	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	.	111
HP:0012202	HP:0200150	Increased serum bile acid concentration during pregnancy	1	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.	144

Genes (21) :ABCB11 ABCB4 ABCD3 AP1B1 ATP8B1 DNAJC21 DZIP1L EFL1 KIF12 MYO5B NR1H4 PKHD1 SBDS SEMA7A SLC10A1 SRP54 TALDO1 TJP2 UNC45A VPS33B VPS50

Diseases (17) :ORPHA:69665 OMIM:614972 OMIM:616278 OMIM:242150 OMIM:243300 OMIM:147480 ORPHA:811 ORPHA:731 OMIM:619662 OMIM:619868 OMIM:619874 OMIM:619256 ORPHA:101028 OMIM:607748 OMIM:619377 OMIM:620010 OMIM:619685

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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