Source: ALL
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0220663 | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases | Disease or Syndrome | genetic disease | 9 | 92 |