Source: GENOMICS_ENGLAND
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
---|---|---|---|---|---|---|---|
C0796126 | AICARDI-GOUTIERES SYNDROME 1 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease | 1 |