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 gram-negative bacterial infections (HP:0005420)

Parent Node:
Recurrent Neisserial infections (HP:0005430)

..Starting node
..Recurrent meningococcal disease (HP:0005381)

Term ID:

5381

Name:

Recurrent meningococcal disease

Synonym:

Increased susceptibility to neisseria meningitidis infections

Definition:

Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.

Comments:

Reference:

HP:0005381

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:0005381	HP:0005381	Recurrent meningococcal disease	0	C5 CL E G H	727	1331	OMIM:609536	C5 deficiency		16
HP:0005381	HP:0005381	Recurrent meningococcal disease	0	C6 CL E G H	729	1339	OMIM:612446	COMPLEMENT COMPONENT 6 DEFICIENCY; C6D		12
HP:0005381	HP:0005381	Recurrent meningococcal disease	0	C7 CL E G H	730	1346	OMIM:610102	COMPLEMENT COMPONENT 7 DEFICIENCY; C7D		14
HP:0005381	HP:0005381	Recurrent meningococcal disease	0	CFB CL E G H	629	1037	OMIM:615561	COMPLEMENT FACTOR B DEFICIENCY; CFBD		30
HP:0005381	HP:0005381	Recurrent meningococcal disease	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0005381	HP:0005381	Recurrent meningococcal disease	0	MBL2 CL E G H	4153	6922	OMIM:614372	Mannose-Binding lectin deficiency		54

Genes (6) :C5 C6 C7 CFB CFI MBL2

Diseases (6) :OMIM:609536 OMIM:612446 OMIM:610102 OMIM:615561 OMIM:610984 OMIM:614372

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