| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0036572 | Seizures | phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Sign or Symptom | disease of anatomical entity | Abnormality of the nervous system | 237 | 417 |
| C0007193 | Cardiomyopathy, Dilated | group | Cardiovascular Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | Abnormality of the cardiovascular system | 43 | 443 |
| C1837397 | Severe global developmental delay | phenotype | Finding | Abnormality of the nervous system | 33 | 50 | ||
| C4551995 | Mitochondrial DNA Depletion Syndrome 1 | disease | Disease or Syndrome | genetic disease; disease of metabolism | 4 | 78 | ||
| C1858424 | Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 2 | 7 | |
| C1837148 | MYOPIA 6 (disorder) | disease | Eye Diseases | Disease or Syndrome | disease of anatomical entity | 2 | 2 |