Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0265261 Multiple pterygium syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease; syndrome 9 11
C1854678 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; syndrome 8 13
C0751651 Mitochondrial Diseases group Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 284 84
C0017921 Glycogen storage disease type II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 194 269
C0268237 Cytochrome-c Oxidase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality genetic disease; disease of metabolism 65 44
C0017919 Glycogen Storage Disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 63 16
C0342751 Generalized glycogen storage disease of infants disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 51 16
C0032708 Disorders of Porphyrin Metabolism group Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 26 7
C1969443 Trifunctional Protein Deficiency With Myopathy And Neuropathy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism 23 34
C0342790 Carnitine palmitoyl transferase 2 deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 11 29
C0017923 Glycogen Storage Disease Type IV disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 10 21
C0795956 Chylomicron retention disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 10 6
C0017922 Glycogen Storage Disease Type III disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 8 125
C1856301 GSD IV, Classic Hepatic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 8
C1856303 GSD IV, Neuromuscular Form, Fatal Perinatal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 0
C1856304 GSD IV, Neuromuscular Form, Congenital disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 6
C1856305 GSD IV, Neuromuscular Form, Childhood disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 1
C1449563 Cardiomyopathy, Familial Idiopathic disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 773 243
C0270960 Congenital myopathy (disorder) group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 63 10
C1276035 Pena-Shokeir syndrome type I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease Abnormality of prenatal development or birth 40 21
C0011849 Diabetes Mellitus group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 2803 824
C0025517 Metabolic Diseases group Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism 945 50
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 2165 159
C0497327 Dementia disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 816 176
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 10161 1644