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:
Unusual CNS infection (HP:0011450)

Parent Node:
Recurrent meningitis (HP:0006946)

..Starting node
..Recurrent bacterial meningitis (HP:0007274)

Term ID:

7274

Name:

Recurrent bacterial meningitis

Synonym:

Definition:

An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.

Comments:

Reference:

HP:0007274

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007274	HP:0007274	Recurrent bacterial meningitis	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked	.	48

Genes (1) :IL2RG

Diseases (1) :OMIM:300400

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