CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0010308 | Congenital Hypothyroidism | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | Abnormality of the endocrine system | 6 | 9 |