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 bacterial infections (HP:0002718)

Parent Node:
Recurrent gram-negative bacterial infections (HP:0005420)

..Starting node
..Recurrent Klebsiella infections (HP:0002742)

Term ID:

2742

Name:

Recurrent Klebsiella infections

Synonym:

Klebsiella infections, recurrent

Definition:

Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.

Comments:

Reference:

HP:0002742

Genes and Diseases:

Child Nodes:

Sister Nodes:

Recurrent Burkholderia cepacia infections (HP:0002842)

Recurrent E. coli infections (HP:0002740)

Recurrent Haemophilus influenzae infections (HP:0005376)

Recurrent Neisserial infections (HP:0005430)

Recurrent Serratia marcescens infections (HP:0002741)

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:0002742	HP:0002742	Recurrent Klebsiella infections	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0002742	HP:0002742	Recurrent Klebsiella infections	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0002742	HP:0002742	Recurrent Klebsiella infections	0	IL12RB1 CL E G H	3594	5971	ORPHA:319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	HP:0040284 - Very rare	46
HP:0002742	HP:0002742	Recurrent Klebsiella infections	0	MBL2 CL E G H	4153	6922	OMIM:614372	Mannose-Binding lectin deficiency		54
HP:0002742	HP:0002742	Recurrent Klebsiella infections	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.	13
HP:0002742	HP:0002742	Recurrent Klebsiella infections	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.	67

Genes (6) :CYBA CYBB IL12RB1 MBL2 NCF1 NCF2

Diseases (6) :OMIM:233690 OMIM:306400 ORPHA:319552 OMIM:614372 OMIM:233700 OMIM:233710

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