# OARD-KG: Top Phenotypes Associated with Marfan Syndrome

👤 **User**
@oard-kg: Get the top 100 phenotypes most strongly associated with Marfan syndrome

---

🧠 **Assistant**

Here are the **top 47 unique phenotypes** most strongly associated with Marfan syndrome (MONDO:0007947) from the OARD-KG, ranked by log odds ratio derived from electronic health record data.

### Results Table

| # | Phenotype | Type | Log OR | 95% CI Low | 95% CI High | N |
|---|-----------|------|-------:|-----------:|------------:|--:|
| 1 | Increased arm span | HP | 7.354 | 6.495 | 8.212 | 11 |
| 2 | Lens position anomaly | MONDO | 6.731 | 6.128 | 7.333 | 17 |
| 3 | Arachnodactyly | HP | 6.543 | 6.151 | 6.934 | 38 |
| 4 | Prolonged QT interval | HP | 6.268 | 6.134 | 6.403 | 423 |
| 5 | Disproportionate tall stature | HP | 6.169 | 5.751 | 6.586 | 30 |
| 6 | Dural ectasia | HP | 5.987 | 5.446 | 6.528 | 17 |
| 7 | Slender finger | HP | 5.860 | 5.291 | 6.428 | 15 |
| 8 | Ectopia lentis | HP | 5.726 | 5.395 | 6.057 | 44 |
| 9 | Dental crowding | HP | 5.551 | 5.045 | 6.057 | 18 |
| 10 | Tall stature | HP | 5.114 | 4.796 | 5.432 | 44 |
| 11 | Dilated cardiomyopathy | HP | 5.027 | 4.897 | 5.156 | 421 |
| 12 | Aortic valve prolapse | HP | 4.868 | 4.516 | 5.219 | 35 |
| 13 | Pectus excavatum | HP | 4.598 | 4.371 | 4.825 | 87 |
| 14 | Ehlers-Danlos syndrome | MONDO | 4.527 | 4.283 | 4.771 | 74 |
| 15 | Abnormal sternum morphology | HP | 4.466 | 4.031 | 4.901 | 22 |
| 16 | Abnormal right ventricle morphology | HP | 4.461 | 3.875 | 5.047 | 12 |
| 17 | Bidirectional shunt | HP | 4.392 | 3.829 | 4.954 | 13 |
| 18 | Pectus carinatum | HP | 4.391 | 4.011 | 4.770 | 29 |
| 19 | Joint hypermobility | HP | 4.298 | 4.020 | 4.577 | 55 |
| 20 | Vocal cord paresis | HP | 4.159 | 3.884 | 4.434 | 56 |
| 21 | Aortic dissection | HP | 4.126 | 3.851 | 4.401 | 56 |
| 22 | Osteogenesis imperfecta | MONDO | 4.115 | 3.508 | 4.722 | 11 |
| 23 | Ascending aortic dissection | HP | 4.106 | 3.630 | 4.582 | 18 |
| 24 | Prader-Willi syndrome | MONDO | 4.067 | 3.594 | 4.540 | 18 |
| 25 | Joint dislocation | HP | 4.043 | 3.621 | 4.465 | 23 |
| 26 | Aortic root aneurysm | HP | 4.025 | 3.710 | 4.340 | 42 |
| 27 | Tricuspid valve prolapse | HP | 4.021 | 3.415 | 4.627 | 11 |
| 28 | Long fingers | HP | 3.983 | 3.619 | 4.347 | 31 |
| 29 | Spontaneous pneumothorax | HP | 3.948 | 3.578 | 4.318 | 30 |
| 30 | Cardiomyopathy | HP | 3.919 | 3.791 | 4.046 | 449 |
| 31 | Familial spontaneous pneumothorax | MONDO | 3.912 | 3.536 | 4.288 | 29 |
| 32 | High palate | HP | 3.827 | 3.489 | 4.165 | 36 |
| 33 | Downslanted palpebral fissures | HP | 3.798 | 3.195 | 4.402 | 11 |
| 34 | Biventricular hypertrophy | HP | 3.793 | 3.468 | 4.118 | 39 |
| 35 | Long foot | HP | 3.775 | 3.172 | 4.379 | 11 |
| 36 | Slender build | HP | 3.695 | 3.178 | 4.213 | 15 |
| 37 | Arterial dissection | HP | 3.673 | 3.215 | 4.131 | 19 |
| 38 | Vocal cord paralysis | HP | 3.631 | 3.362 | 3.900 | 58 |
| 39 | Atrioventricular canal defect | HP | 3.611 | 3.009 | 4.213 | 11 |
| 40 | Medial degeneration | HP | 3.555 | 3.242 | 3.868 | 42 |
| 41 | Atrioventricular septal defect | MONDO | 3.531 | 2.955 | 4.107 | 12 |
| 42 | Right aortic arch | HP | 3.524 | 3.076 | 3.972 | 20 |
| 43 | Hypertelorism | HP | 3.498 | 3.038 | 3.957 | 19 |
| 44 | Thoracic aortic aneurysm | HP | 3.480 | 3.160 | 3.800 | 40 |
| 45 | Perimembranous ventricular septal defect | HP | 3.409 | 2.834 | 3.984 | 12 |
| 46 | Secundum atrial septal defect | HP | 3.404 | 3.002 | 3.805 | 25 |
| 47 | Exertional dyspnea | HP | 3.400 | 3.223 | 3.578 | 146 |
| 48 | Right ventricular hypertrophy | HP | 3.398 | 3.177 | 3.620 | 88 |

### Key Observations

**Skeletal features** dominate the highest associations — increased arm span (log OR 7.35), arachnodactyly (6.54), disproportionate tall stature (6.17), slender fingers (5.86), and tall stature (5.11) are all hallmark connective tissue features of Marfan syndrome.

**Ocular features** appear strongly: lens position anomaly (6.73) and ectopia lentis (5.73) both rank in the top 10, consistent with the classical diagnostic triad.

**Cardiovascular manifestations** are prominent throughout: dilated cardiomyopathy (5.03), aortic valve prolapse (4.87), aortic dissection (4.13), aortic root aneurysm (4.03), and thoracic aortic aneurysm (3.48) all appear — reflecting the life-threatening aortopathy of the disease.

**Comorbid connective tissue conditions** like Ehlers-Danlos syndrome (4.53) and osteogenesis imperfecta (4.11) also appear, suggesting frequent clinical overlap or shared genetic architecture.

### SPARQL Query Used

```sparql
PREFIX biolink: <https://w3id.org/biolink/vocab/>
PREFIX rdfs: <http://www.w3.org/2000/01/rdf-schema#>
PREFIX xsd: <http://www.w3.org/2001/XMLSchema#>

SELECT DISTINCT ?phenotypeLabel ?phenotypeURI ?logOR ?logOR_CI ?totalSampleSize
WHERE {
  BIND(<http://purl.obolibrary.org/obo/MONDO_0007947> AS ?disease)

  ?assoc biolink:subject ?disease ;
         biolink:object ?phenotype ;
         biolink:has_supporting_studies ?study .

  ?phenotype rdfs:label ?phenotypeLabel .
  BIND(?phenotype AS ?phenotypeURI)

  ?study biolink:has_study_results ?result .
  ?result biolink:log_odds_ratio ?logOR .

  OPTIONAL { ?result biolink:log_odds_ratio_95_ci ?logOR_CI }
  OPTIONAL { ?result biolink:total_sample_size ?totalSampleSize }
}
ORDER BY DESC(xsd:decimal(?logOR))
LIMIT 100
```

**Data source:** [OARD-KG](https://apps.okn.us/oard-kg/sparql) — Open Annotations for Rare Diseases Knowledge Graph  
**Disease queried:** Marfan syndrome · MONDO:0007947  
**Association metric:** Log odds ratio from LogOddsAnalysisResult nodes  
**Ontologies:** HP (Human Phenotype Ontology), MONDO (Monarch Disease Ontology)

---

*Created by [mcp-proto-okn](https://github.com/sbl-sdsc/mcp-proto-okn) 0.6.0 on 2026-05-04*

*Model: claude-sonnet-4-6 (claude-sonnet-4-20250514)*
