| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C1859452 | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases | Congenital Abnormality | genetic disease; disease of anatomical entity | 1 | |
| C1846059 | Roifman syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases | Disease or Syndrome | 1 | ||
| C0005818 | Blood Platelet Disorders | group | Hemic and Lymphatic Diseases | Disease or Syndrome | disease of anatomical entity | 13 |