CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0410203 | X-linked centronuclear myopathy | disease | Musculoskeletal Diseases; Nervous System Diseases | Congenital Abnormality | disease of anatomical entity | 1 | 26 |