| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0432291 | Mandibuloacral dysostosis | disease | Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | Disease or Syndrome | 17 | 16 |