Disorder of orbital region
diseaseOn this page
Also known as disease of orbital regiondisease or disorder of orbital regiondisorder of eye regionorbital region diseaseorbital region disease or disorder
Summary
Disorder of orbital region (MONDO:0002022) is a disease with 9 GWAS associations across 13 studies. 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
- GWAS associations: 9
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | disorder of orbital region |
| Mondo ID | MONDO:0002022 |
| DOID | DOID:1492 |
| ICD-10-CM | H00-H59 |
| SNOMED CT | 371409005 |
| UMLS | C5886742 |
| MedGen | 1863347 |
| Anatomy (UBERON) | UBERON:0004088 |
| Is cancer (heuristic) | no |
Also known as: disease of orbital region · disease or disorder of orbital region · disorder of eye region · disorder of orbital region · orbital region disease · orbital region disease or disorder
Data availability: 9 GWAS associations (13 studies).
Disease family
An umbrella term covering 4 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › disorder of orbital region
Related subtypes (18): 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, mouth disorder, disorder of visual system, otorhinolaryngologic disease
Subtypes (4): eye adnexa disorder, eye disorder, orbit neoplasm, orbital dermoid cyst
Genetics & variants
GWAS landscape
9 GWAS associations across 13 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 |
|---|---|---|---|---|
| rs144463999 | 9e-10 | RARB | ? | |
| chr19:52908647 | 9e-09 | A | 2.64 | |
| chr7:119063172 | 1e-08 | C | 2.19 | |
| chr2:168484203 | 2e-08 | T | 2.29 | |
| chr7:45492017 | 2e-08 | A | 1.27 | |
| chr9:91286930 | 4e-08 | C | 3.03 | |
| chr2:55539659 | 5e-08 | C | 1.51 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90473459 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 8,369 | 450,071 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90667927 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 8,369 | 450,071 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90473462 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 7,629 | 450,811 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90667939 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 7,629 | 450,811 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90473384 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 1,143 | 457,297 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90473465 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 610 | 457,830 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90481936 | Verma A | 2024 | 339 | 450,267 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90473460 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 326 | 9,287 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90473463 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 307 | 9,306 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90726843 | Kim HI | 2026 | 267 | 43,759 | 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 | 7 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 6 |
Functional consequences
| Consequence | Count |
|---|---|
| unknown | 6 |
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs144463999 | 3 | 25234649 | T>TC | 0.05 | intron_variant | RARB | 9e-10 | Tier 4: intronic/intergenic |
| chr19:52908647 | 9e-09 | Tier 4: intronic/intergenic | ||||||
| chr7:119063172 | 1e-08 | Tier 4: intronic/intergenic | ||||||
| chr2:168484203 | 2e-08 | Tier 4: intronic/intergenic | ||||||
| chr7:45492017 | 2e-08 | Tier 4: intronic/intergenic | ||||||
| chr9:91286930 | 4e-08 | Tier 4: intronic/intergenic | ||||||
| chr2:55539659 | 5e-08 | 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.