Upper respiratory tract disorder

Summary

Upper respiratory tract disorder (MONDO:0004867) is a disease (an umbrella term covering 10 Mondo subtypes) with 66 GWAS associations across 30 studies. A subtype of respiratory system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 10 Mondo subtypes
• GWAS associations: 66

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	upper respiratory tract disorder
Mondo ID	MONDO:0004867
DOID	DOID:974
SNOMED CT	201060008
UMLS	C0264221
MedGen	538406
Anatomy (UBERON)	UBERON:0001557
Is cancer (heuristic)	no

Also known as: disease of upper respiratory tract · disease or disorder of upper respiratory tract · disorder of upper respiratory tract · upper respiratory tract disease · upper respiratory tract disease or disorder

Data availability: 66 GWAS associations (30 studies).

Disease family

This is a subtype of respiratory system disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › respiratory system disorder › upper respiratory tract disorder

Related subtypes (58): lower respiratory tract disorder, respiratory system cancer, respiratory system benign neoplasm, allergic respiratory disease, paranasal sinus disorder, pertussis, severe acute respiratory syndrome, sleep apnea syndrome, diaphragm disorder, pulmonary tuberculosis, altitude sickness, perinatal asphyxia, pulmonary nodular lymphoid hyperplasia, tracheobronchopathia osteochondroplastica, Williams-Campbell syndrome, cystic fibrosis, growth delay-hydrocephaly-lung hypoplasia syndrome, laryngo-onycho-cutaneous syndrome, congenital pulmonary lymphangiectasia, familial primary pulmonary hypoplasia, Mounier-Kuhn syndrome, Young syndrome, lung agenesis-heart defect-thumb anomalies syndrome, sudden infant death-dysgenesis of the testes syndrome, alpha 1-antitrypsin deficiency, hereditary sclerosing poikiloderma with tendon and pulmonary involvement, autoimmune interstitial lung disease-arthritis syndrome, mucopolysaccharidosis-plus syndrome, congenital bronchobiliary fistula, bronchogenic cyst, primary ciliary dyskinesia, congenital pulmonary airway malformation, transient hyperammonemia of the newborn, congenital pulmonary sequestration, Siegler-Brewer-Carey syndrome, tracheal agenesis, 16q24.1 microdeletion syndrome, staphylococcal necrotizing pneumonia, pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis, plastic bronchitis, recurrent respiratory papillomatosis, IgG4-related mediastinitis, bronchopulmonary dysplasia, infantile apnea, diffuse alveolar hemorrhage, respiratory or thoracic malformation, pulmonary agenesis, eosinophilic granuloma, disorder of pharynx, respiratory tract neoplasm, pulmonary alveolar proteinosis with hypogammaglobulinemia, respiratory tract infectious disorder, Middle East respiratory syndrome, reactive airway disease, acinar dysplasia, pulmonary hypoplasia, isolated left bronchial isomerism, bronchiectasis and nasal polyposis

Subtypes (10): uvulitis, adenoid hypertrophy, tonsillitis, acute laryngopharyngitis, nasal cavity disorder, pharyngitis, tracheal disorder, laryngeal disorder, nasopharyngeal disorder, epiglottitis

Genetics & variants

GWAS landscape

66 GWAS associations across 30 studies. Top hits map to 11 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
chr9:6197392	5e-33		C	0.07
chr5:111066174	4e-30		C	0.07
chr17:4632019	4e-25		A	0.21
chr6:32628873	1e-24		C	0.06
chr4:38797027	2e-22		A	0.06
chr2:102297754	4e-22		G	0.08
chr11:76580110	3e-21		A	0.05
chr2:241759225	8e-21		A	0.06
chr17:40608272	8e-20		A	0.16
chrX:1243320	4e-18		A	0.07
chr5:35873021	2e-17		GT	0.05
chr16:11125184	1e-16		A	0.05
chr10:9010183	2e-16		G	0.05
chr4:122556793	4e-16		T	0.05
rs573841223	1e-15	TNFRSF13B	G	1.21
chr15:67150258	2e-15		T	0.05
rs10849448	8e-15	LTBR	G	0.94
chr2:8302417	8e-15		A	0.05
chr5:40492553	3e-13		T	0.04
chr12:56013288	1e-12		A	0.04
6p22-21	4e-12		?	1.07
chr15:60756001	4e-11		T	0.05
rs1045267	6e-11	MIR4435-2HG	G	0.95
chr1:167463712	7e-11		C	0.04
rs3758213	2e-10	NEK6	T	0.95
chr6:90301105	2e-10		ATTAC	0.03
rs2095044	3e-10	RANBP6 - GTF3AP1	C	0.95
chr2:198029415	3e-10		C	0.03
rs4648051	5e-10	NFKB1	G	0.95
rs5860793	1e-09	RNU6-351P - TET2	GC	1.05

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473682	UK Biobank Whole-Genome Sequencing Consortium	2025	80,634	377,806	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667955	UK Biobank Whole-Genome Sequencing Consortium	2025	80,634	377,806	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90269783	Saarentaus EC	2023	61,197	199,208	Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation.
GCST90478115	Verma A	2024	16,591	400,529	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90269777	Saarentaus EC	2023	6,518	199,208	Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation.
GCST90269788	Saarentaus EC	2023	6,518	199,208	Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation.
GCST90478114	Verma A	2024	4,626	106,922	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481088	Verma A	2024	4,626	106,922	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436208	Zhou W	2018	4,101	390,045	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90281181	Hamilton FW	2023	2,795	483,689	Therapeutic potential of IL6R blockade for the treatment of sepsis and sepsis-related death: A Mendelian randomisation study.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	3
Tier 3: regulatory	0
Tier 4: intronic/intergenic	47

MAF distribution

Bucket	Variants
common (>=0.05)	12
low_freq (0.01-0.05)	4
rare (<0.01)	1
unknown	33

Functional consequences

Consequence	Count
unknown	33
intron_variant	9
intergenic_variant	4
5_prime_UTR_variant	2
non_coding_transcript_exon_variant	1
splice_polypyrimidine_tract_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr9:6197392							5e-33	Tier 4: intronic/intergenic
chr5:111066174							4e-30	Tier 4: intronic/intergenic
chr17:4632019							4e-25	Tier 4: intronic/intergenic
chr6:32628873							1e-24	Tier 4: intronic/intergenic
chr4:38797027							2e-22	Tier 4: intronic/intergenic
chr2:102297754							4e-22	Tier 4: intronic/intergenic
chr11:76580110							3e-21	Tier 4: intronic/intergenic
chr2:241759225							8e-21	Tier 4: intronic/intergenic
chr17:40608272							8e-20	Tier 4: intronic/intergenic
chrX:1243320							4e-18	Tier 4: intronic/intergenic
chr5:35873021							2e-17	Tier 4: intronic/intergenic
chr16:11125184							1e-16	Tier 4: intronic/intergenic
chr10:9010183							2e-16	Tier 4: intronic/intergenic
chr4:122556793							4e-16	Tier 4: intronic/intergenic
rs573841223	17	16939881	C>G,T	0.025	intron_variant	TNFRSF13B	1e-15	Tier 4: intronic/intergenic
chr15:67150258							2e-15	Tier 4: intronic/intergenic
rs10849448	12	6384185	A>G	0.245	5_prime_UTR_variant	LTBR	8e-15	Tier 2: splice/UTR
chr2:8302417							8e-15	Tier 4: intronic/intergenic
chr5:40492553							3e-13	Tier 4: intronic/intergenic
chr12:56013288							1e-12	Tier 4: intronic/intergenic
6p22-21							4e-12	Tier 4: intronic/intergenic
chr15:60756001							4e-11	Tier 4: intronic/intergenic
rs1045267	2	111429464	A>C,G,T	0.34	non_coding_transcript_exon_variant	MIR4435-2HG	6e-11	Tier 4: intronic/intergenic
chr1:167463712							7e-11	Tier 4: intronic/intergenic
rs3758213	9	124307465	C>T	0.381	intron_variant	NEK6	2e-10	Tier 4: intronic/intergenic
chr6:90301105							2e-10	Tier 4: intronic/intergenic
rs2095044	9	6192796	T>A,C,G	0.24	intergenic_variant	RANBP6 - GTF3AP1	3e-10	Tier 4: intronic/intergenic
chr2:198029415							3e-10	Tier 4: intronic/intergenic
rs4648051	4	102593836	A>G	0.32	intron_variant	NFKB1	5e-10	Tier 4: intronic/intergenic
rs5860793	4	105129809	G>GC	0.284	intergenic_variant	RNU6-351P - TET2	1e-09	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.