Source: ALL
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C2750785 | MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | 19 |