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
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
C3463824 MYELODYSPLASTIC SYNDROME group Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 29
C0017919 Glycogen Storage Disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 27
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
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
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
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
C4521256 Glomerulopathy Assessment phenotype Diagnostic Procedure 23
C0268731 Renal glomerular disease group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 23
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
C1838979 MITOCHONDRIAL COMPLEX I DEFICIENCY disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 22
C0431350 Primary microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 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
C4551720 Primary Ciliary Dyskinesia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 21
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 20
C0030312 Pancytopenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 20
C0265202 Seckel syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 20
C0003886 Arthrogryposis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 19
C0006267 Bronchiectasis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 19
C0020305 Hydrops Fetalis disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth 19