| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0018777 | Conductive hearing loss | disease | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | Abnormality of the ear | 3 | 4 | |
| C0265251 | Oto-Palato-digital syndrome type 1 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Disease or Syndrome | 0 | 3 | ||
| C0349588 | Short stature | phenotype | Finding | Growth abnormality | 190 | 292 | ||
| C2981150 | Uranostaphyloschisis | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases | Congenital Abnormality | syndrome; physical disorder | Abnormality of head or neck | 21 | 24 |