Tongue disorder

Summary

Tongue disorder (MONDO:0001165) is a disease (an umbrella term covering 9 Mondo subtypes) with 1 GWAS associations across 7 studies and 1 clinical trial. A subtype of mouth disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 9 Mondo subtypes
• GWAS associations: 1
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	tongue disorder
Mondo ID	MONDO:0001165
MeSH	D014060
DOID	DOID:10944
ICD-11	928435705
NCIT	C173793
SNOMED CT	69244009
UMLS	C0040409
MedGen	52777
Anatomy (UBERON)	UBERON:0001723
Is cancer (heuristic)	no

Also known as: disease of tongue · disease or disorder of tongue · disorder of tongue · tongue disease · tongue disease or disorder

Data availability: 1 GWAS association (7 studies).

Disease family

This is a subtype of mouth 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 › mouth disorder › tongue disorder

Related subtypes (26): uvulitis, adenoid hypertrophy, oral hairy leukoplakia, salivary gland 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

Subtypes (9): hypertrophy of tongue papillae, glossitis, hairy tongue, ankyloglossia, fissured tongue, isolated congenital hypoglossia/aglossia, digestive duplication cyst of the tongue, tongue neoplasm, glossodynia

Genetics & variants

GWAS landscape

1 GWAS associations across 7 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
rs11572778	2e-07	ESRRG	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473766	UK Biobank Whole-Genome Sequencing Consortium	2025	3,849	454,591	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90080184	Backman JD	2021	1,808	384,676	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084170	Backman JD	2021	1,808	384,676	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90080183	Backman JD	2021	866	387,037	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084169	Backman JD	2021	866	387,037	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90726980	Kim HI	2026	827	43,199	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
GCST90651931	Liu TY	2025	390	215,085	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

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	1

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs11572778	1	216565551	T>A	0.05	intron_variant	ESRRG	2e-07	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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02794766	PHASE2	COMPLETED	Inulin and S. Salivarius Reduce Halitosis