| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C3553788 | ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 | disease | Disease or Syndrome | disease of anatomical entity | 1 | 37 | ||
| C1832466 | CAPOS syndrome | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | 1 | 10 | ||
| C1868681 | DYSTONIA 12 | disease | Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | 25 | |
| C0026650 | Movement Disorders | group | Nervous System Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of the nervous system | 162 | 240 |