CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0686353 | Muscular Dystrophies, Limb-Girdle | group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of limbs; Abnormality of the musculature | 118 | 37 |