Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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 31
C3151519 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C3150412 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C3150417 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 disease Disease or Syndrome disease of anatomical entity 1
C4310704 RETINITIS PIGMENTOSA 76 disease Disease or Syndrome 1