Mouth disorder
disease diseaseOn this page
Also known as disease of mouthdisease or disorder of mouthdisorder of mouthmouth diseasemouth disease or disorderoral diseaseoral disorder
Summary
Mouth disorder (MONDO:0006858) is a disease (an umbrella term covering 27 Mondo subtypes) with 6 GWAS associations across 39 studies and 81 clinical trials. Top therapeutic interventions include chlorhexidine, ginger, and resveratrol. A subtype of disease by body system or component — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 27 Mondo subtypes
- GWAS associations: 6
- Clinical trials: 81
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | mouth disorder |
| Mondo ID | MONDO:0006858 |
| EFO | EFO:1001047 |
| MeSH | D009059 |
| DOID | DOID:403 |
| NCIT | C3240 |
| SNOMED CT | 118938008 |
| UMLS | C0026636 |
| MedGen | 6448 |
| Anatomy (UBERON) | UBERON:0000165 |
| Is cancer (heuristic) | no |
Also known as: disease of mouth · disease or disorder of mouth · disorder of mouth · mouth disease · mouth disease or disorder · oral disease · oral disorder
Data availability: 6 GWAS associations (39 studies).
Disease family
An umbrella term covering 27 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › mouth disorder
Related subtypes (18): disorder of orbital region, integumentary system disorder, musculoskeletal system disorder, urinary system disorder, syndromic disease, auditory system disorder, breast disorder, connective tissue disorder, digestive system disorder, cardiovascular disorder, reproductive system disorder, immune system disorder, nervous system disorder, respiratory system disorder, endocrine system disorder, hematologic disorder, disorder of visual system, otorhinolaryngologic disease
Subtypes (27): uvulitis, adenoid hypertrophy, oral hairy leukoplakia, salivary gland disorder, tongue disorder, alveolar periostitis, lip disorder, oral Crohn disease, maxillary sinusitis, oral candidiasis, oral tuberculosis, Ludwig’s angina, maxillary sinus cholesteatoma, burning mouth syndrome, oral leukoedema, tooth disorder, commissural lip fistula, oral submucous fibrosis, florid cemento-osseous dysplasia, oral cavity neoplasm, neoplasm of floor of mouth, polyp of maxillary sinus, neoplasm of jaw, osteoradionecrosis of the mandible, odontoma, lichen planus, oral, mouth mucosa disorder
Genetics & variants
GWAS landscape
6 GWAS associations across 39 studies. Top hits map to 1 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs12873332 | 8e-09 | LINC00343 - RNA5SP38 | ? | |
| chr21:33083331 | 1e-08 | G | 0.13 | |
| chr5:52467525 | 2e-08 | T | 1.75 | |
| chrX:131982891 | 2e-08 | C | 2.23 | |
| chr17:67106926 | 4e-08 | C | 0.14 | |
| rs75267177 | 1e-06 | MARCHF1 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90044341 | Jiang L | 2021 | 275,220 | 179,345 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90473750 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 36,455 | 421,985 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90667770 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 36,455 | 421,985 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90079437 | Backman JD | 2021 | 13,435 | 161,774 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083423 | Backman JD | 2021 | 13,435 | 161,774 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90478305 | Verma A | 2024 | 11,530 | 418,032 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90652224 | Liu TY | 2025 | 8,859 | 215,085 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90473765 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 7,445 | 450,995 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90436288 | Zhou W | 2018 | 3,939 | 403,323 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90080182 | Backman JD | 2021 | 3,921 | 381,774 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 6 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 2 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 4 |
Functional consequences
| Consequence | Count |
|---|---|
| unknown | 4 |
| intron_variant | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs12873332 | 13 | 106003929 | A>G | 0.05 | intron_variant | LINC00343 - RNA5SP38 | 8e-09 | Tier 4: intronic/intergenic |
| chr21:33083331 | 1e-08 | Tier 4: intronic/intergenic | ||||||
| chr5:52467525 | 2e-08 | Tier 4: intronic/intergenic | ||||||
| chrX:131982891 | 2e-08 | Tier 4: intronic/intergenic | ||||||
| chr17:67106926 | 4e-08 | Tier 4: intronic/intergenic | ||||||
| rs75267177 | 4 | 164333592 | A>T | 0.05 | intron_variant | MARCHF1 | 1e-06 | 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: 81.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 69 |
| PHASE2 | 3 |
| PHASE4 | 2 |
| PHASE3 | 2 |
| PHASE1 | 2 |
| PHASE2/PHASE3 | 1 |
| PHASE1/PHASE2 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT02500654 | PHASE4 | COMPLETED | Regenerative Surgical Treatment of Peri-implantitis |
| NCT04386421 | PHASE4 | UNKNOWN | A Comparison of Three Different Modalities in Improving Oral Hygiene |
| NCT06882564 | PHASE3 | RECRUITING | Efficacy of Resveratrol Containing Mouthwash in Reducing Halitosis Related Porphyrymonas Gingivalis. |
| NCT06900881 | PHASE2/PHASE3 | RECRUITING | Role of Kefir Mouth Wash in Oral Health Status Amelioration |
| NCT05787600 | PHASE3 | COMPLETED | Anti-inflammatory and Anti-plaque Efficacies of Mouth Rinse Containing Hyaluronic Acid and Hydrogen Peroxide |
| NCT00228280 | PHASE1/PHASE2 | UNKNOWN | Periapical Bone Healing After Apicectomy With and Without Retrograde Root Filling |
| NCT00230191 | PHASE2 | COMPLETED | Safety and Efficacy of RK0202 in Oral Mucositis |
| NCT01902095 | PHASE2 | COMPLETED | Clinical Effects of Tooth Powder on Gingivitis |
| NCT06792812 | PHASE2 | COMPLETED | The Impact of Ginger Mouthwash on the Pregnant Women With Stress and Gingivitis |
| NCT00000111 | PHASE1 | UNKNOWN | Intraoral Grafting of Ex Vivo Produced Oral Mucosal Composites |
| NCT06888453 | PHASE1 | COMPLETED | Propolis Lozenges Extract and Their Effect on Salivary Biomarkers and on Oral Health Condition in (19_24) Years Old |
| NCT02790853 | EARLY_PHASE1 | ACTIVE_NOT_RECRUITING | Multimodal Imaging for Surveillance in Patients With Oral Potentially Malignant Disorders |
| NCT04602572 | Not specified | NOT_YET_RECRUITING | Obesity and Oral Diseases in Adult Patients |
| NCT05758467 | Not specified | ENROLLING_BY_INVITATION | Oral Health in Adults: Social Gradients and Correlation With Cardiovascular Health |
| NCT05853783 | Not specified | RECRUITING | Evaluation of Oral Potentially Malignant Disorders (OPMDs) with STRATICYTE™ |
| NCT06321003 | Not specified | RECRUITING | SYsteMatical Trained learnIng aLgorithms for Oral carcInogenesiS Interpretation by Optical Coherence Tomography |
| NCT06341959 | Not specified | RECRUITING | Can a Low-threshold Check-up Motivate Older People to Schedule a Dental Visit? |
| NCT06381700 | Not specified | NOT_YET_RECRUITING | Effectiveness of MySmile App for Improving the Oral Health of Secondary School Children: |
| NCT06536322 | Not specified | ACTIVE_NOT_RECRUITING | Evaluation of the Use of a Novel Oral Health Screening Instrument by Caregivers in Nursing Homes |
| NCT06648083 | Not specified | RECRUITING | Acquisition of Full Oral Feeding and Further Oral Disorders in Extremely Preterm Infants |
| NCT06714760 | Not specified | RECRUITING | Evaluation of the Galea-pericranium Flap in Reconstruction of Oral Cavity Defects |
| NCT06797778 | Not specified | ENROLLING_BY_INVITATION | Oral Health Promotion Program in Schools in Polígono Sur |
| NCT07490834 | Not specified | ENROLLING_BY_INVITATION | Long-term Nutritional Impact of Necrotizing Enterocolitis in Premature Newborns. |
| NCT00001601 | Not specified | COMPLETED | Evaluation and Treatment of Oral Soft Tissue Diseases |
| NCT00001648 | Not specified | COMPLETED | Structure of the Herpes Simplex Virus Receptor |
| NCT00001952 | Not specified | COMPLETED | Using a Narcotic to Enhance the Numbing Effect of the Local Anesthetic Lidocaine on Inflamed Molar Teeth |
| NCT00444977 | Not specified | COMPLETED | Enhancing Oral Health Care Use by HIV Positive Individuals |
| NCT00540774 | Not specified | COMPLETED | Optical Sensor for Photodynamic Detection of Oral Pathology |
| NCT01532323 | Not specified | COMPLETED | Oral Sphere: Salivary Markers and Food. A Prospective Study in Children Expressing Oral Disorders |
| NCT01915966 | Not specified | COMPLETED | Efficacy Study of a Ginger and Cardamom Gelatin for Xerostomy in Terminally Ill Patients |
| NCT02262247 | Not specified | COMPLETED | A Post-Market Clinical Trial for Access and Visualization of the Oropharynx, Hypopharynx and Larynx During Transoral Procedures |
| NCT02347124 | Not specified | COMPLETED | Promoting Oral Health Among Smokers Randomized Trial |
| NCT02357199 | Not specified | COMPLETED | Interventional Study Targeting Oral Infections in Patients With Chronic Kidney Disease |
| NCT02374905 | Not specified | TERMINATED | Testing Interventions to Reduce Alcohol Consumption Among Outpatients in a Dental Setting |
| NCT02737176 | Not specified | UNKNOWN | Tobacco Cessation Intervention Study for Oral Diseases |
| NCT02774967 | Not specified | COMPLETED | Comparation Between Two Surgical Techniques With Acellular Dermal Matrix in Treatment of Gingival Recessions |
| NCT02870270 | Not specified | COMPLETED | Prospective Studies on Oral Health and Quality of Life in Head and Neck Cancer Patients |
| NCT02894372 | Not specified | COMPLETED | Faringomoss Effectiveness in Inhibiting Acute Throat Pain and Discomfort |
| NCT02913235 | Not specified | COMPLETED | Salivary Bacterial Associations to Short Term Discontinuation of Self-performed Oral Hygiene |
| NCT03074188 | Not specified | UNKNOWN | Prevalence of Oral Findings in Chronic Kidney Disease |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CHLORHEXIDINE | 4 | 3 |
| GINGER | 3 | 1 |
| RESVERATROL | 3 | 1 |
| PROFLAVINE | 2 | 4 |
Related Atlas pages
- Drugs: Chlorhexidine, Ginger, Resveratrol