CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
---|---|---|---|---|---|---|---|
C0002452 | Amelogenesis Imperfecta | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | Congenital Abnormality | genetic disease; disease of anatomical entity | Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue | 10 |
C1855849 | Bartter syndrome, antenatal , type 2 | disease | Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 |