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:
Increased inflammatory response (HP:0012649)

Parent Node:
Abnormal pericardium morphology (HP:0001697)

Parent Node:
Serositis (HP:0045073)

..Starting node
..Pericarditis (HP:0001701)

Term ID:

1701

Name:

Pericarditis

Synonym:

Swelling or irritation of membrane around heart

Definition:

Inflammation of the sac-like covering around the heart (pericardium).

Comments:

Reference:

HP:0001701

Genes and Diseases:

Child Nodes:

........

Constrictive pericarditis (HP:0002563)

Sister Nodes:

Peritonitis (HP:0002586)

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:0001701	HP:0001701	Pericarditis	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001701	HP:0001701	Pericarditis	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001701	HP:0001701	Pericarditis	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0001701	HP:0001701	Pericarditis	0	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus	.	10
HP:0001701	HP:0001701	Pericarditis	0	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus	.	3
HP:0001701	HP:0001701	Pericarditis	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001701	HP:0001701	Pericarditis	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0001701	HP:0001701	Pericarditis	0	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus	.	6
HP:0001701	HP:0001701	Pericarditis	0	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus	.	2
HP:0001701	HP:0001701	Pericarditis	0	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040283 - Occasional	200
HP:0001701	HP:0001701	Pericarditis	0	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040283 - Occasional	88
HP:0001701	HP:0001701	Pericarditis	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0001701	HP:0001701	Pericarditis	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0001701	HP:0001701	Pericarditis	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040283 - Occasional	4
HP:0001701	HP:0001701	Pericarditis	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0001701	HP:0001701	Pericarditis	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0001701	HP:0001701	Pericarditis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0001701	HP:0001701	Pericarditis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional	2
HP:0001701	HP:0001701	Pericarditis	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0001701	HP:0001701	Pericarditis	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001701	HP:0001701	Pericarditis	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001701	HP:0001701	Pericarditis	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001701	HP:0001701	Pericarditis	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001701	HP:0001701	Pericarditis	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional	2
HP:0001701	HP:0001701	Pericarditis	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional	1
HP:0001701	HP:0001701	Pericarditis	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001701	HP:0001701	Pericarditis	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional	1
HP:0001701	HP:0001701	Pericarditis	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0001701	HP:0001701	Pericarditis	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0001701	HP:0001701	Pericarditis	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0001701	HP:0001701	Pericarditis	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional	281
HP:0001701	HP:0001701	Pericarditis	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0001701	HP:0001701	Pericarditis	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional	1
HP:0001701	HP:0001701	Pericarditis	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187
HP:0001701	HP:0001701	Pericarditis	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0001701	HP:0001701	Pericarditis	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0001701	HP:0001701	Pericarditis	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0001701	HP:0001701	Pericarditis	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0001701	HP:0001701	Pericarditis	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0001701	HP:0001701	Pericarditis	0	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome		6
HP:0001701	HP:0001701	Pericarditis	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0001701	HP:0001701	Pericarditis	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0001701	HP:0001701	Pericarditis	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0001701	HP:0001701	Pericarditis	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0001701	HP:0001701	Pericarditis	0	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus	.	3
HP:0001701	HP:0001701	Pericarditis	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001701	HP:0001701	Pericarditis	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001701	HP:0001701	Pericarditis	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0001701	HP:0001701	Pericarditis	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040281 - Very frequent	131
HP:0001701	HP:0001701	Pericarditis	0	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus	.	56
HP:0001701	HP:0001701	Pericarditis	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001701	HP:0002563	Constrictive pericarditis	1	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.	6

Genes (38) :C4A CCR1 CTLA4 DNASE1 ERAP1 FAS FCGR2A FCGR2B HBA1 HBA2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IL6 IRF4 KLRC4 LACC1 MAF MEFV MIF NOD2 P4HA2 PMM2 PRG4 PRTN3 PTPN22 RNU7-1 STAT4 TLR4 TNFRSF1A TREX1 UBAC2

Diseases (21) :ORPHA:117 ORPHA:900 OMIM:152700 ORPHA:163596 ORPHA:397 ORPHA:29207 ORPHA:85414 ORPHA:3452 ORPHA:1272 OMIM:601088 ORPHA:342 OMIM:249100 ORPHA:90340 OMIM:186580 OMIM:617321 OMIM:212065 ORPHA:79318 OMIM:208250 ORPHA:2848 OMIM:619487 ORPHA:32960

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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