Table 1 Number of HPO in each category (leaf nodes)
From: Examining HPO by organ and system to facilitate practical use by clinicians
categories within Phenotypic Abnormality | N |
|---|---|
Abnormality of the genitourinary system | 1039 |
Abnormal cellular phenotyp | 191 |
Abnormality of blood and blood-forming tissues | 570 |
Abnormality of head and neck | 961 |
Abnormality of limbs | 1688 |
Abnormality of metabolism/homeostasis | 1219 |
Abnormality of prenatal development or birth | 192 |
Abnormality of the breast | 24 |
Abnormality of the cardiovascular system | 957 |
Abnormality of the digestive system | 496 |
Abnormality of the ear | 213 |
Abnormality of the endocrine system | 273 |
Abnormality of the eye | 777 |
Abnormality of the immune system | 871 |
Abnormality of the integument | 713 |
Abnormality of the muscleskeletal system | 2743 |
Abnormality of the nervous system | 1586 |
Abnormality of the respiratory system | 445 |
Abnormality of the thoracic cavity | 4 |
Abnormality of the voice | 21 |
Constitutional symptom | 81 |
Growth abnormality | 68 |
Neoplasm | 435 |