| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C0751882 | Myasthenic Syndromes, Congenital | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | Disease or Syndrome | disease of anatomical entity | 17 | |
| C3809216 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | disease | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | ||
| C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | disease | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | ||
| C3714932 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 | disease | Disease or Syndrome | disease of anatomical entity | 1 |