| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0039585 | Androgen-Insensitivity Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | Disease or Syndrome | disease of anatomical entity | 1 | 98 | |
| C1839259 | Bulbo-Spinal Atrophy, X-Linked | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | 27 |