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:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Unusual CNS infection (HP:0011450)

..Starting node
..Recurrent meningitis (HP:0006946)

Term ID:

6946

Name:

Recurrent meningitis

Synonym:

Definition:

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

Comments:

Reference:

HP:0006946

Genes and Diseases:

Child Nodes:

........

Recurrent bacterial meningitis (HP:0007274)

Sister Nodes:

Brain abscess (HP:0030049)

Infectious encephalitis (HP:0002383)

Meningitis (HP:0001287)

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:0006946	HP:0006946	Recurrent meningitis	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0006946	HP:0006946	Recurrent meningitis	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0006946	HP:0006946	Recurrent meningitis	0	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0006946	HP:0006946	Recurrent meningitis	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0006946	HP:0007274	Recurrent bacterial meningitis	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked	.	48

Genes (4) :CFI IL2RG MYD88 WAS

Diseases (4) :OMIM:610984 OMIM:300400 OMIM:612260 OMIM:301000

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