From: Rare disorders have many faces: in silico characterization of rare disorder spectrum
Category | Overall | Borderline-common | Rare | Ultra-rare | Da | ||
---|---|---|---|---|---|---|---|
Measuresb | Prop, % | Prop, % | Adj. p-valuec | Prop, % | Adj. p-valuec | Prop, % | Â |
Top 15 HPO terms for the RD spectrum | Â | Â | Â | Â | Â | Â | Â |
Seizures | 22.92 | 16.79d | NS | 23.77d | NS | 23.17d | – |
Intellectual disability | 21.98 | 6.87 | 8.49 × 10–05 | 17.31d | 2.85 × 10–02 | 23.95d | ↑ |
Short stature | 21.40 | 10.69d | 1.14 × 10–02 | 17.31d | NS | 22.96d | ↑ |
Global developmental delay | 20.04 | 6.87 | 4.41 × 10–04 | 13.44d | 1.02 × 10–03 | 22.28d | ↑ |
Microcephaly | 15.68 | 2.29 | 1.06 × 10–05 | 6.20 | 1.32 × 10–08 | 18.51d | ↑ |
Hypertelorism | 15.06 | 3.82 | 3.22 × 10–04 | 6.72 | 6.05 × 10–07 | 17.52d | ↑ |
Scoliosis | 14.94 | 8.40d | NS | 16.28d | NS | 15.12d | – |
Muscular hypotonia | 13.09 | 6.87 | NS | 14.21d | NS | 13.28d | – |
Strabismus | 12.76 | 4.58 | 1.75 × 10–02 | 9.82d | NS | 13.91d | ↑ |
Micrognathia | 12.67 | 4.58 | 1.05 × 10–02 | 5.17 | 1.69 × 10–06 | 14.75d | ↑ |
Cryptorchidism | 11.28 | 4.58 | 4.48 × 10–02 | 8.27 | NS | 12.34d | ↑ |
Nystagmus | 9.75 | 3.82 | NS | 9.82d | NS | 10.15d | – |
Hearing impairment | 9.38 | 8.40d | NS | 13.18d | 4.32 × 10–02 | 8.68 | – |
Cleft palate | 9.26 | 6.87 | NS | 7.24 | NS | 9.83d | – |
Failure to thrive | 8.97 | 3.82 | NS | 11.89d | NS | 8.73 | – |
Top 15 HPO terms for the borderline-common disorders | Â | Â | Â | Â | Â | Â | Â |
Seizures | 22.92d | 16.79 | NS | 23.77d | NS | 23.17d | – |
Arthralgia | 3.33 | 12.21 | 2.22 × 10–06 | 9.82d | 7.92 × 10–12 | 1.41 | ↓ |
Depressivity | 2.72 | 10.69 | 1.06 × 10–05 | 6.98 | 2.88 × 10–07 | 1.31 | ↓ |
Short stature | 21.40d | 10.69 | 1.14 × 10–02 | 17.31d | NS | 22.96d | ↑ |
Abdominal pain | 2.84 | 9.92 | 2.07 × 10–05 | 8.53 | 2.25 × 10–10 | 1.20 | ↓ |
Fatigue | 3.87 | 9.92 | 8.42 × 10–04 | 10.34d | 1.13 × 10–09 | 2.14 | – |
Headache | 2.35 | 9.92 | 4.11 × 10–05 | 4.65 | 1.68 × 10–03 | 1.36 | ↓ |
Hypertension | 3.74 | 9.92 | 1.36 × 10–03 | 8.79 | 7.87 × 10–07 | 2.30 | ↓ |
Hepatomegaly | 5.64 | 9.16 | NS | 11.11d | 2.64 × 10–05 | 4.29 | – |
Renal insufficiency | 3.13 | 9.16 | 8.77 × 10–04 | 7.49 | 2.62 × 10–06 | 1.83 | ↓ |
Attention deficit hyperactivity disorder | 3.00 | 8.40 | 1.17 × 10–02 | 4.13 | NS | 2.41 | ↓ |
Constipation | 3.54 | 8.40 | 4.88 × 10–02 | 8.27 | 2.98 × 10–06 | 2.25 | ↓ |
Diarrhea | 2.51 | 8.40 | 1.37 × 10–03 | 4.91 | 3.82 × 10–03 | 1.62 | ↓ |
Hearing impairment | 9.38d | 8.40 | NS | 13.18d | 4.32 × 10–02 | 8.68 | – |
Jaundice | 1.85 | 8.40 | 2.34 × 10–05 | 4.91 | 7.99 × 10–06 | 0.78 | ↓ |
Muscle weakness | 4.20 | 8.40 | 3.34 × 10–02 | 8.79 | 5.18 × 10–05 | 2.98 | ↓ |
Scoliosis | 14.94d | 8.40 | NS | 16.28d | NS | 15.12d | – |
Sleep disturbance | 3.17 | 8.40 | 1.79 × 10–02 | 4.13 | NS | 2.62 | ↓ |
Splenomegaly | 4.16 | 8.40 | 4.02 × 10–02 | 8.01 | 6.32 × 10–04 | 3.09 | ↓ |