| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0948242 | Nuchal bleb, familial | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases | Congenital Abnormality | disease of anatomical entity; disease of cellular proliferation | Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth; Abnormality of head or neck | 24 | 9 |