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 the biliary system (HP:0004297)

Parent Node:
Cholestasis (HP:0001396)

..Starting node
..Cholestatic liver disease (HP:0002611)

Term ID:

2611

Name:

Cholestatic liver disease

Synonym:

Definition:

Comments:

Reference:

HP:0002611

Genes and Diseases:

Child Nodes:

........

Neonatal cholestatic liver disease (HP:0006566)

Sister Nodes:

Acholic stools (HP:0011985)

Extrahepatic cholestasis (HP:0012334)

Intrahepatic cholestasis (HP:0001406)

Jaundice (HP:0000952)

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:0002611	HP:0002611	Cholestatic liver disease	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0002611	HP:0002611	Cholestatic liver disease	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO	.	3
HP:0002611	HP:0002611	Cholestatic liver disease	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002611	HP:0002611	Cholestatic liver disease	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002611	HP:0002611	Cholestatic liver disease	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare	170
HP:0002611	HP:0002611	Cholestatic liver disease	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	99
HP:0002611	HP:0002611	Cholestatic liver disease	0	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1		26
HP:0002611	HP:0002611	Cholestatic liver disease	0	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis	HP:0040282 - Frequent	5
HP:0002611	HP:0002611	Cholestatic liver disease	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0002611	HP:0002611	Cholestatic liver disease	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare
HP:0002611	HP:0002611	Cholestatic liver disease	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0002611	HP:0002611	Cholestatic liver disease	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0002611	HP:0002611	Cholestatic liver disease	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0002611	HP:0002611	Cholestatic liver disease	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0002611	HP:0002611	Cholestatic liver disease	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0002611	HP:0002611	Cholestatic liver disease	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0002611	HP:0002611	Cholestatic liver disease	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0002611	HP:0002611	Cholestatic liver disease	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002611	HP:0006566	Neonatal cholestatic liver disease	1	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040281 - Very frequent	26

Genes (18) :AMACR CCDC115 DHCR7 DNASE2 EPCAM HADHA HSD3B7 NEUROG3 NOTCH2 PERCC1 PRF1 SHPK STX11 STXBP2 UNC13D VIPAS39 VPS33B YARS1

Diseases (14) :ORPHA:79095 OMIM:616828 OMIM:270400 OMIM:619858 ORPHA:92050 ORPHA:5 ORPHA:79301 ORPHA:83620 OMIM:610205 ORPHA:540 ORPHA:440713 OMIM:613404 OMIM:208085 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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