| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0332878 | Congenital contracture | group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature | 2 | 2 | |
| C1837658 | Gross motor development delay | disease | Mental Disorders | Disease or Syndrome | Abnormality of the nervous system | 39 | 59 | |
| C1850794 | Proximal amyotrophy | disease | Disease or Syndrome | Abnormality of the musculature | 1 | 1 | ||
| C0349588 | Short stature | phenotype | Finding | Growth abnormality | 190 | 292 |