| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0349588 | Short stature | phenotype | Finding | Growth abnormality | 190 | 292 | ||
| C4551563 | Microcephaly (physical finding) | phenotype | Finding | Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system | 160 | 246 | ||
| C0423224 | Sunken eyes | phenotype | Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | Finding | Abnormality of the eye | 28 | 54 | |
| C0038002 | Splenomegaly | phenotype | Pathological Conditions, Signs and Symptoms | Finding | Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system | 14 | 19 | |
| C0457756 | Tooth absent | phenotype | Finding | Abnormality of head or neck | 5 | 6 | ||
| C4692625 | SHWACHMAN-DIAMOND SYNDROME 1 | disease | Disease or Syndrome | syndrome | 3 | 8 |