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:
Recurrent infections (HP:0002719)

Parent Node:
Recurrent viral infections (HP:0004429)

..Starting node
..Recurrent herpes (HP:0005353)

Term ID:

5353

Name:

Recurrent herpes

Synonym:

Susceptibility to herpesvirus

Definition:

Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.

Comments:

Reference:

HP:0005353

Genes and Diseases:

Child Nodes:

........

Herpes simplex encephalitis (HP:0012302)

........

Kaposi's sarcoma (HP:0100726)

........

Oral herpes (HP:0410028)

Sister Nodes:

obsolete Severe viral infections (HP:0005364)

Recurrent enteroviral infections (HP:0002743)

Recurrent viral skin infections (HP:0011371)

Severe recurrent varicella (HP:0005428)

Susceptibility to chickenpox (HP:0005360)

Susceptibility to coronavirus 229e (HP:0005396)

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:0005353	HP:0005353	Recurrent herpes	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0005353	HP:0005353	Recurrent herpes	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0005353	HP:0005353	Recurrent herpes	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0005353	HP:0005353	Recurrent herpes	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0005353	HP:0005353	Recurrent herpes	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0005353	HP:0005353	Recurrent herpes	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0005353	HP:0005353	Recurrent herpes	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0005353	HP:0005353	Recurrent herpes	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0005353	HP:0005353	Recurrent herpes	0	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0005353	HP:0005353	Recurrent herpes	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0005353	HP:0005353	Recurrent herpes	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0005353	HP:0005353	Recurrent herpes	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040283 - Occasional	48
HP:0005353	HP:0005353	Recurrent herpes	0	MBL2 CL E G H	4153	6922	OMIM:614372	Mannose-Binding lectin deficiency		54
HP:0005353	HP:0005353	Recurrent herpes	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0005353	HP:0005353	Recurrent herpes	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0005353	HP:0005353	Recurrent herpes	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0005353	HP:0005353	Recurrent herpes	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0005353	HP:0005353	Recurrent herpes	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0005353	HP:0005353	Recurrent herpes	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0005353	HP:0005353	Recurrent herpes	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0005353	HP:0005353	Recurrent herpes	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0005353	HP:0005353	Recurrent herpes	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0005353	HP:0005353	Recurrent herpes	0	UNC93B1 CL E G H	81622	13481	OMIM:610551	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1; IIAE1		5
HP:0005353	HP:0005353	Recurrent herpes	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0005353	HP:0032157	Recurrent genital herpes	1	CL E G H
HP:0005353	HP:0410028	Recurrent oral herpes	1	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0005353	HP:0032275	Recurrent shingles	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0005353	HP:0032275	Recurrent shingles	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0005353	HP:0410028	Recurrent oral herpes	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0005353	HP:0410028	Recurrent oral herpes	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0005353	HP:0410028	Recurrent oral herpes	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0005353	HP:0032275	Recurrent shingles	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30

Genes (23) :ARHGEF1 BLM CASP8 CD247 CD3D CD3E CIITA FCGR3A IGHG2 IGKC IL2RG MBL2 NFKB2 REL RFX5 RFXANK RFXAP STAT1 TOM1 TPP2 UNC119 UNC93B1 WAS

Diseases (17) :OMIM:618459 ORPHA:125 OMIM:607271 OMIM:610163 ORPHA:169160 ORPHA:572 OMIM:615707 ORPHA:183675 ORPHA:276 OMIM:614372 OMIM:615577 OMIM:619652 ORPHA:391487 OMIM:619220 OMIM:615518 OMIM:610551 OMIM:301000

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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