Human Phenotype Ontology

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

..Starting node
..Persistent CMV viremia (HP:0032247)

Term ID:

32247

Name:

Persistent CMV viremia

Synonym:

Definition:

Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.

Comments:

Reference:

HP:0032247

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032247	HP:0032247	Persistent CMV viremia	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0032247	HP:0032247	Persistent CMV viremia	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52	2
HP:0032247	HP:0032247	Persistent CMV viremia	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN	17
HP:0032247	HP:0032247	Persistent CMV viremia	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	43
HP:0032247	HP:0032247	Persistent CMV viremia	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92	1
HP:0032247	HP:0032247	Persistent CMV viremia	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78

Genes (6) :IL2RB LAT MAGT1 PIK3R1 REL TPP2

Diseases (6) :OMIM:618495 OMIM:617514 OMIM:300853 OMIM:616005 OMIM:619652 OMIM:619220

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.