Tooth hard tissue disease
disease diseaseOn this page
Also known as disorder of hard tissues of teeth
Summary
Tooth hard tissue disease (MONDO:0002220) is a disease (an umbrella term covering 7 Mondo subtypes) with 1 GWAS associations across 8 studies. A subtype of tooth disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 7 Mondo subtypes
- GWAS associations: 1
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | tooth hard tissue disease |
| Mondo ID | MONDO:0002220 |
| DOID | DOID:214 |
| ICD-10-CM | K03 |
| SNOMED CT | 46557008 |
| UMLS | C0155926 |
| MedGen | 510140 |
| Is cancer (heuristic) | no |
Also known as: disorder of hard tissues of teeth
Data availability: 1 GWAS association (8 studies).
Disease family
This is a subtype of tooth 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 › musculoskeletal system disorder › skeletal system disorder › tooth disorder › tooth hard tissue disease
Related subtypes (10): dental abscess, tooth erosion, non-bacterial, dental pulp disorder, tooth agenesis, dental fluorosis, anodontia, taurodontism, dentinogenesis imperfecta, odontogenic neoplasm, dental radicular dysplasia
Subtypes (7): tooth resorption, dental enamel hypoplasia, dentin sensitivity, dental caries, hypercementosis, tooth ankylosis, dentin dysplasia
Genetics & variants
GWAS landscape
1 GWAS associations across 8 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 |
|---|---|---|---|---|
| rs146910218 | 2e-07 | ANKFN1 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90478232 | Verma A | 2024 | 81,675 | 341,795 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90478231 | Verma A | 2024 | 38,020 | 72,064 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480848 | Verma A | 2024 | 38,020 | 72,064 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90478229 | Verma A | 2024 | 15,087 | 40,195 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651929 | Liu TY | 2025 | 5,325 | 208,919 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90436263 | Zhou W | 2018 | 3,091 | 398,136 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90478230 | Verma A | 2024 | 1,442 | 4,991 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90726970 | Kim HI | 2026 | 273 | 43,753 | Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity. |
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) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs146910218 | 17 | 56067324 | T>G | intron_variant | ANKFN1 | 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: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.