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:
Abnormal nasopharynx morphology (HP:0001739)

Grandparent Node:
Recurrent respiratory infections (HP:0002205)

Parent Node:
Recurrent lower respiratory tract infections (HP:0002783)

Parent Node:
Recurrent upper respiratory tract infections (HP:0002788)

..Starting node
..Recurrent upper and lower respiratory tract infections (HP:0200117)

Term ID:

200117

Name:

Recurrent upper and lower respiratory tract infections

Synonym:

Definition:

Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.

Comments:

Reference:

HP:0200117

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic bronchitis (HP:0004469)

Recurrent bronchitis (HP:0002837)

Recurrent pharyngitis (HP:0100776)

Recurrent sinusitis (HP:0011108)

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:0200117	HP:0200117	Recurrent upper and lower respiratory tract infections	0	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2	.	58
HP:0200117	HP:0200117	Recurrent upper and lower respiratory tract infections	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040282 - Frequent	94
HP:0200117	HP:0200117	Recurrent upper and lower respiratory tract infections	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0200117	HP:0200117	Recurrent upper and lower respiratory tract infections	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0200117	HP:0200117	Recurrent upper and lower respiratory tract infections	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0200117	HP:0200117	Recurrent upper and lower respiratory tract infections	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0200117	HP:0200117	Recurrent upper and lower respiratory tract infections	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0200117	HP:0200117	Recurrent upper and lower respiratory tract infections	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent	67
HP:0200117	HP:0200117	Recurrent upper and lower respiratory tract infections	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent	61
HP:0200117	HP:0200117	Recurrent upper and lower respiratory tract infections	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent	57
HP:0200117	HP:0200117	Recurrent upper and lower respiratory tract infections	0	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5	.	44
HP:0200117	HP:0200117	Recurrent upper and lower respiratory tract infections	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0200117	HP:0200117	Recurrent upper and lower respiratory tract infections	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46

Genes (13) :AICDA DCLRE1C GLI3 MDFIC MGAT2 RAG1 RAG2 SCNN1A SCNN1B SCNN1G UNG USP9X ZAP70

Diseases (10) :OMIM:605258 ORPHA:275 ORPHA:672 OMIM:620014 ORPHA:79329 ORPHA:331206 ORPHA:171876 OMIM:608106 ORPHA:480880 ORPHA:911

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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