Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 133
C0152427 Polydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality physical disorder Abnormality of limbs; Abnormality of the skeletal system 112
C4277690 Ciliopathies disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 109
C0035334 Retinitis Pigmentosa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 78
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 53
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 44
C0494261 Combined immunodeficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 41
C0152423 Congenital small ears disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality Abnormality of the ear 40
C0598589 Inherited neuropathies disease Nervous System Diseases Disease or Syndrome 40
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 38
C3860213 Autoinflammatory disorder disease Disease or Syndrome 35
C0023467 Leukemia, Myelocytic, Acute disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 33
C0543888 Epileptic encephalopathy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 30
C1260899 Anemia, Diamond-Blackfan disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 29
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 26
C0014544 Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 25
C0158981 Neonatal diabetes mellitus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism 25
C0431399 Familial aplasia of the vermis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome Abnormality of the nervous system 25
C0023465 Acute monocytic leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 24
C0265219 Miller Dieker syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; syndrome 24
C0015625 Fanconi Anemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 22
C0020443 Hypercholesterolemia disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 22
C0431350 Primary microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 22
C1838979 MITOCHONDRIAL COMPLEX I DEFICIENCY disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 22
C0023264 Leigh Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 21