CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
---|---|---|---|---|---|---|---|
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 | 9 |