Table 6 The PCNV/UPD detection rate among ES patients having CMA at BG with or without a top-level HPO term
HPO term | HPO ID | PCNV/UPD detection rate with HPO term | PCNV/UPD detection rate without HPO term | Odds ratio | Fisher exact test (p value) |
|---|---|---|---|---|---|
Abnormality of the cardiovascular system | HP:0001626 | 61/616 (9.01) | 112/2087 (5.09) | 1.84 | 0.0004 |
Abnormality of the respiratory system | HP:0002086 | 39/365 (9.65) | 134/2338 (5.42) | 1.86 | 0.0021 |
Growth abnormality | HP:0001507 | 70/805 (8) | 103/1898 (5.15) | 1.6 | 0.0037 |
Abnormality of the head or neck | HP:0000152 | 95/1210 (7.28) | 75/1496 (4.77) | 1.57 | 0.0053 |
Abnormality of connective tissue | HP:0003549 | 19/219 (7.98) | 154/2484 (5.84) | 1.4 | 0.1983 |
Abnormality of the immune system | HP:0002715 | 26/324 (7.43) | 147/2379 (5.82) | 1.3 | 0.231 |
Abnormality of blood and blood-forming tissues | HP:0001871 | 23/272 (7.8) | 173/2703 (6.02) | 1.32 | 0.2516 |
Abnormality of the ear | HP:0000598 | 25/312 (7.42) | 148/2391 (5.83) | 1.29 | 0.2712 |
Abnormality of the skeletal system | HP:0000924 | 84/1127 (6.94) | 173/2703 (6.02) | 1.16 | 0.2898 |
Abnormality of metabolism/homeostasis | HP:0001939 | 27/347 (7.22) | 146/2356 (5.84) | 1.26 | 0.294 |
Abnormality of the breast | HP:0000769 | 2/17 (10.53) | 171/2686 (5.99) | 1.85 | 0.3183 |
Abnormality of prenatal development or birth | HP:0001197 | 15/297 (4.81) | 158/2406 (6.16) | 0.77 | 0.3798 |
Abnormality of abdomen morphology | HP:0001438 | 39/543 (6.7) | 134/2160 (5.84) | 1.16 | 0.4354 |
Abnormality of the limbs | HP:0040064 | 24/322 (6.94) | 149/2381 (5.89) | 1.19 | 0.4687 |
Abnormality of the genitourinary system | HP:0000119 | 27/371 (6.78) | 146/2332 (5.89) | 1.16 | 0.4953 |
Abnormality of the eye | HP:0000478 | 40/576 (6.49) | 133/2127 (5.88) | 1.11 | 0.5669 |
Neoplasm | HP:0002664 | 3/72 (4) | 170/2631 (6.07) | 0.64 | 0.6242 |
Abnormality of the endocrine system | HP:0000818 | 9/177 (4.84) | 164/2526 (6.1) | 0.78 | 0.6314 |
Abnormality of the musculature | HP:0003011 | 62/989 (5.9) | 111/1714 (6.08) | 0.97 | 0.8709 |
Abnormality of the integument | HP:0001574 | 25/405 (5.81) | 148/2298 (6.05) | 0.96 | 0.9128 |
Abnormality of the nervous system | HP:0000707 | 139/2166 (6.03) | 34/537 (5.95) | 1.01 | 1 |