| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C1858120 | Generalized hypotonia | phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | Abnormality of the musculature | 942 | |
| C0001125 | Acidosis, Lactic | phenotype | Nutritional and Metabolic Diseases | Disease or Syndrome | disease of metabolism | Abnormality of metabolism/homeostasis | 167 |
| C3279841 | Pyruvate Dehydrogenase E1-Beta Deficiency | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 1 |