Source: UNIPROT
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1834846 | Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | disease | Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | 6 |