| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C2674608 | Feeding difficulties in infancy | phenotype | Finding | Abnormality of the digestive system | 18 | 22 | ||
| C1865014 | Long philtrum | phenotype | Finding | Abnormality of head or neck | 15 | 16 | ||
| C1857042 | Sparse scalp hair | phenotype | Finding | Abnormality of the integument; Abnormality of head or neck | 7 | 7 | ||
| C1856118 | Prominent nasal tip | phenotype | Finding | Abnormality of head or neck | 4 | 4 | ||
| C0023003 | Langer-Giedion Syndrome | disease | Musculoskeletal Diseases | Disease or Syndrome | genetic disease | 1 | 2 | |
| C0344511 | Atresia of nasolacrimal duct | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | Abnormality of head or neck | 1 | 1 |