Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0008495 Chorioamnionitis phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity 132 2
C0085693 Acute appendicitis NOS (disorder) disease Digestive System Diseases; Infections Disease or Syndrome 43 2
C0038354 Stomach Diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity 70 3
C0426970 Spastic Quadriplegia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of the musculature 86 7
C0079102 Cerebral Thrombosis disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 15 7
C0080233 Tooth Loss disease Stomatognathic Diseases Acquired Abnormality 49 8
C0795687 Cerebral arterial thrombosis disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 14 9
C0003615 Appendicitis disease Digestive System Diseases; Infections Disease or Syndrome disease of anatomical entity 83 10
C0023529 Leukomalacia, Periventricular disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 62 10
C0006625 Cachexia phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Growth abnormality 273 11
C0151945 Thrombosis of cerebral veins disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 35 11
C4551649 Congenital Dysplasia Of The Hip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 147 27
C0860207 Drug-Induced Liver Disease phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 537 29
C0221775 Lumbar disc disease disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 49 30
C0017665 Membranous glomerulonephritis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system; Abnormality of the immune system 197 33
C1845050 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 209 37
C0158266 Intervertebral Disc Degeneration disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 342 47
C0001339 Acute pancreatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 435 51
C3489532 Cone-Rod Dystrophy 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 254 51
C0035222 Respiratory Distress Syndrome, Adult disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 434 60
C0007789 Cerebral Palsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 241 69
C1832661 ANOPHTHALMIA AND PULMONARY HYPOPLASIA disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome genetic disease 1410 80
C0266929 Chronic Periodontitis disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 287 99
C0151744 Myocardial Ischemia disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 756 103
C0520679 Sleep Apnea, Obstructive disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome disease of mental health Abnormality of the nervous system; Abnormality of the respiratory system 480 105