| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0431399 | Familial aplasia of the vermis | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity; syndrome | Abnormality of the nervous system | 26 | 175 |
| C0024507 | Majewski Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Disease or Syndrome | genetic disease | 11 | 31 | |
| C4017084 | SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY | disease | Finding | 2 | 7 | |||
| C4225342 | RETINITIS PIGMENTOSA 71 | disease | Disease or Syndrome | genetic disease; disease of anatomical entity | 2 | 7 | ||
| C3810175 | SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY | disease | Disease or Syndrome | genetic disease | 2 | 6 | ||
| C4017085 | SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY | disease | Finding | 1 | 2 |