Table 2.
Top 20 HPO concepts among cases and controls
| Ciliopathy cases (n = 30) | Controls (n = 7231) | ||
|---|---|---|---|
| HPO concepts | # Patients (%) | HPO concepts | # Patients (%) |
| Chronic kidney disease | 77 | Fever | 47 |
| Abnormality of the kidney | 73 | Pyelonephritis | 32 |
| Nephropathy | 73 | Proteinuria | 31 |
| Renal insufficiency | 73 | Pain | 26 |
| Anemia | 53 | Seizure | 17 |
| Fatigue | 53 | Renal insufficiency | 15 |
| Proteinuria | 53 | Vesicoureteral reflux | 15 |
| Arteriovenous fistula | 47 | Muscular hypotonia | 15 |
| Stage 5 chronic kidney disease | 43 | Cough | 14 |
| Hypertension | 40 | Diarrhea | 14 |
| Hyperparathyroidism | 37 | Hematuria | 13 |
| Pain | 37 | Constipation | 12 |
| Pollakisuria | 37 | Abnormality of the kidney | 12 |
| Anorexia | 30 | Increased body weight | 12 |
| Fever | 30 | Hypertension | 12 |
| Nausea | 30 | Moderate albuminuria | 11 |
| Polydipsia | 30 | Edema | 11 |
| Enuresis | 27 | Albuminuria | 11 |
| Hypokalemia | 27 | Nephropathy | 11 |
| Moderate albuminuria | 27 | Respiratory distress | 11 |
# Number of patients