| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C0012236 | DiGeorge Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | Disease or Syndrome | genetic disease | 15 | |
| C0477325 | Immunodeficiency associated with other specified major defects | disease | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | ||
| C1866426 | T-cell immunodeficiency, congenital alopecia and nail dystrophy | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 |