Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0264886 Conduction disorder of the heart group Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 76
C0008370 Cholestasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 74
C0013720 Ehlers-Danlos Syndrome disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 72
C1955869 Malformations of Cortical Development group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 69
C0010278 Craniosynostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of head or neck; Abnormality of the skeletal system 66
C0020305 Hydrops Fetalis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth 65
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 62
C1968949 Cakut disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 61
C0266470 Cerebellar Hypoplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 60
C0009363 Congenital ocular coloboma (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of head or neck 60
C1691228 Cystic Kidney Diseases group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity; genetic disease 58
C4025414 Radial club hand disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 58
C0345050 Congenital aneurysm of ascending aorta disease Cardiovascular Diseases Congenital Abnormality disease of anatomical entity 55
C0035410 Rhabdomyolysis phenotype Musculoskeletal Diseases Pathologic Function disease of anatomical entity Abnormality of the musculature 53
C0162872 Aortic Aneurysm, Thoracic disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 52
C0030567 Parkinson Disease disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 52
C0036875 Disorders of Sex Development group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality disease of anatomical entity 51
C0699743 Congenital muscular dystrophy (disorder) disease Disease or Syndrome disease of anatomical entity Abnormality of the musculature 45
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 44
C0432330 Erythrokeratoderma disease Congenital Abnormality 42
C0022596 Palmoplantar Keratosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of limbs; Abnormality of the integument 42
C1855670 Abnormality of the cornea group Finding Abnormality of the eye 41
C0342384 Idiopathic hypogonadotropic hypogonadism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity 40
C0271713 Ketotic hypoglycemia phenotype Disease or Syndrome Abnormality of metabolism/homeostasis 40
C0002452 Amelogenesis Imperfecta disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality disease of anatomical entity Abnormality of connective tissue; Abnormality of head or neck; Abnormality of the skeletal system 35