| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C4551772 | GALLOWAY-MOWAT SYNDROME 1 | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease | 2 | |
| C1847114 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | Disease or Syndrome | 1 |