Source: CLINVAR
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 |