Source: ALL
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C1860224 | ABLEPHARON-MACROSTOMIA SYNDROME | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases | Disease or Syndrome | genetic disease; syndrome | 41 | 14 |