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:
Abnormal lung morphology (HP:0002088)

Parent Node:
Respiratory tract infection (HP:0011947)

..Starting node
..Recurrent acute respiratory tract infection (HP:0011948)

Term ID:

11948

Name:

Recurrent acute respiratory tract infection

Synonym:

Acute respiratory tract infection

Definition:

A history of repeated acute infections of the upper or lower respiratory tract.

Comments:

Reference:

HP:0011948

Genes and Diseases:

Child Nodes:

........

Acute infectious pneumonia (HP:0011949)

........

Bronchiolitis (HP:0011950)

Sister Nodes:

Bronchitis (HP:0012387)

Pneumonia (HP:0002090)

Recurrent respiratory infections (HP:0002205)

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:0011948	HP:0011948	Recurrent acute respiratory tract infection	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0011948	HP:0011948	Recurrent acute respiratory tract infection	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0011948	HP:0011948	Recurrent acute respiratory tract infection	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0011948	HP:0011948	Recurrent acute respiratory tract infection	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0011948	HP:0011948	Recurrent acute respiratory tract infection	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0011948	HP:0011948	Recurrent acute respiratory tract infection	0	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0011948	HP:0011948	Recurrent acute respiratory tract infection	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16		61
HP:0011948	HP:0011948	Recurrent acute respiratory tract infection	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0011948	HP:0011948	Recurrent acute respiratory tract infection	0	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I		5
HP:0011948	HP:0011948	Recurrent acute respiratory tract infection	0	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I		17
HP:0011948	HP:0011948	Recurrent acute respiratory tract infection	0	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I		3
HP:0011948	HP:0011950	Bronchiolitis	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0011948	HP:0011950	Bronchiolitis	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0011948	HP:0011950	Bronchiolitis	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0011948	HP:0011950	Bronchiolitis	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.	21
HP:0011948	HP:0011950	Bronchiolitis	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040284 - Very rare	759
HP:0011948	HP:0011950	Bronchiolitis	1	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.	61
HP:0011948	HP:0011950	Bronchiolitis	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0011948	HP:0011950	Bronchiolitis	1	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I	.	5
HP:0011948	HP:0011950	Bronchiolitis	1	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I	.	17
HP:0011948	HP:0011950	Bronchiolitis	1	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I	.	3

Genes (11) :ALDH18A1 ELN FBLN5 PLCG2 PLEC REEP1 SDCCAG8 SLC35C1 TAP1 TAP2 TAPBP

Diseases (7) :ORPHA:90348 OMIM:614878 ORPHA:254361 OMIM:620011 OMIM:615993 OMIM:266265 OMIM:604571

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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