| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0026827 | Muscle hypotonia | phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | Abnormality of the musculature | 336 | 579 | |
| C3810363 | Optic atrophy, intellectual disability syndrome | disease | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | Disease or Syndrome | 2 | 11 |