| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0026827 | Muscle hypotonia | phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | Abnormality of the musculature | 336 | 579 | |
| C0432072 | Dysmorphic features | disease | Congenital Abnormality | 335 | 611 | |||
| C1849265 | Overgrowth | phenotype | Finding | Growth abnormality | 81 | 93 | ||
| C0752166 | Bardet-Biedl Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 23 | 157 | |
| C2936863 | Bardet-Biedl syndrome 2 (disorder) | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease | 1 | 46 |