Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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)

Grandparent Node:
Respiratory tract infection (HP:0011947)

Parent Node:
Recurrent respiratory infections (HP:0002205)

..Starting node
..Recurrent bronchopulmonary infections (HP:0006538)

Term ID:

6538

Name:

Recurrent bronchopulmonary infections

Synonym:

Recurrent infections in bronchi and lungs

Definition:

An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.

Comments:

Reference:

HP:0006538

Genes and Diseases:

Child Nodes:

Sister Nodes:

Recurrent infections due to aspiration (HP:0004891)

Recurrent lower respiratory tract infections (HP:0002783)

Recurrent sinopulmonary infections (HP:0005425)

Recurrent streptococcus pneumoniae infections (HP:0005366)

Recurrent upper respiratory tract infections (HP:0002788)

Respiratory infections in early life (HP:0004880)

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:0006538	HP:0006538	Recurrent bronchopulmonary infections	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0006538	HP:0006538	Recurrent bronchopulmonary infections	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.	1371
HP:0006538	HP:0006538	Recurrent bronchopulmonary infections	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0006538	HP:0006538	Recurrent bronchopulmonary infections	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0006538	HP:0006538	Recurrent bronchopulmonary infections	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.	6
HP:0006538	HP:0006538	Recurrent bronchopulmonary infections	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0006538	HP:0006538	Recurrent bronchopulmonary infections	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0006538	HP:0006538	Recurrent bronchopulmonary infections	0	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein	.	1
HP:0006538	HP:0006538	Recurrent bronchopulmonary infections	0	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency	HP:0040281 - Very frequent	1
HP:0006538	HP:0006538	Recurrent bronchopulmonary infections	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0006538	HP:0006538	Recurrent bronchopulmonary infections	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0006538	HP:0006538	Recurrent bronchopulmonary infections	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0006538	HP:0006538	Recurrent bronchopulmonary infections	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.	13
HP:0006538	HP:0006538	Recurrent bronchopulmonary infections	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0006538	HP:0006538	Recurrent bronchopulmonary infections	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1

Genes (14) :CARS1 CFTR ERCC2 ERCC3 FCGR2A GTF2E2 GTF2H5 LAMTOR2 MPLKIP RNF113A TARS1 TGFB1 USB1 VPS33A

Diseases (6) :ORPHA:33364 OMIM:219700 OMIM:610798 ORPHA:90023 OMIM:604173 OMIM:617303

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

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