Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 120
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 66
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
C1969024 CARDIOMYOPATHY, DILATED, 1X disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C0410174 Fukuyama Type Congenital Muscular Dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C1969040 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1
C2751052 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 disease Disease or Syndrome genetic disease; disease of anatomical entity 1