| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C2673410 | Small midface | phenotype | Finding | Abnormality of head or neck | 23 | 24 | ||
| C1849089 | Broad forehead | phenotype | Finding | Abnormality of head or neck | 11 | 13 | ||
| C0399526 | Class III malocclusion | disease | Stomatognathic Diseases | Congenital Abnormality | Abnormality of head or neck; Abnormality of the skeletal system | 5 | 5 | |
| C2931196 | Craniofacial dysostosis type 1 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Disease or Syndrome | disease of anatomical entity | 3 | 34 | |
| C1852504 | Misalignment of teeth | phenotype | Finding | Abnormality of head or neck | 2 | 2 | ||
| C4016346 | CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL | disease | Finding | 1 | 1 |