Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0020445 Hypercholesterolemia, Familial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 35
C0282528 Peroxisomal Disorders group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism 35
C3889979 Periodic Fever Syndrome disease Disease or Syndrome 30
C0017185 Gastrointestinal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 29
C0751882 Myasthenic Syndromes, Congenital disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity 29
C0027831 Neurofibromatosis 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process genetic disease 28
C0751336 Distal Muscular Dystrophies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 27
C0010308 Congenital Hypothyroidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 26
C0749420 Thyroid Agenesis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality disease of anatomical entity Abnormality of the endocrine system 26
C0391976 Pain Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 24
C1142166 Brugada Syndrome (disorder) disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome disease of anatomical entity 23
C0013364 Dysautonomia, Familial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality; Disease or Syndrome disease of anatomical entity 21
C0014527 Epidermolysis Bullosa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality disease of anatomical entity 20
C0024228 Lymphatic Diseases group Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 20
C0342482 X-linked Adrenal Hypoplasia disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity 20
C0346153 Breast Cancer, Familial disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 19
C0023976 Long QT Syndrome disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of anatomical entity 18
C3203102 Idiopathic pulmonary arterial hypertension disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system; Abnormality of the respiratory system 17
C2973725 Pulmonary arterial hypertension disease Disease or Syndrome Abnormality of the cardiovascular system; Abnormality of the respiratory system 17
C0079541 Holoprosencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality physical disorder Abnormality of the nervous system 16
C4021133 Left ventricular noncompaction cardiomyopathy disease Disease or Syndrome Abnormality of the cardiovascular system 16
C0349788 Arrhythmogenic Right Ventricular Dysplasia disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality; Disease or Syndrome disease of anatomical entity 15
C0078917 Albinism, Ocular disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the eye 14
C0001126 Renal tubular acidosis phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 14
C1527249 Colorectal Cancer disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 13