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
..Severe recurrent varicella (HP:0005428)

Term ID:

5428

Name:

Severe recurrent varicella

Synonym:

Definition:

Comments:

Reference:

HP:0005428

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Severe viral infections (HP:0005364)

Recurrent enteroviral infections (HP:0002743)

Recurrent herpes (HP:0005353)

Recurrent viral skin infections (HP:0011371)

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:0005428	HP:0005428	Severe recurrent varicella	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0005428	HP:0005428	Severe recurrent varicella	0	CYBB CL E G H	1536	2578	OMIM:300645	Atypical mycobacteriosis, familial, X-linked 2	.	111
HP:0005428	HP:0005428	Severe recurrent varicella	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040283 - Occasional	48

Genes (3) :ARHGEF1 CYBB IL2RG

Diseases (3) :OMIM:618459 OMIM:300645 ORPHA:276

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