Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0015826 Fenestration (morphologic abnormality) disease Acquired Abnormality 43 0
C0751633 Carotid Artery Plaque disease Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 41 3
C0032584 polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18
C0009917 Contracture disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 111 12
C1285498 Vegetation disease Anatomical Abnormality 67 0
C0009918 Contracture of joint disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 36 0
C0220668 Congenital contractural arachnodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 559 48
C0152021 Congenital heart disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 267 80
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
C1961121 Congenital vascular anomaly group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 42 1
C0340803 Capillary malformation (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the integument 40 13
C2937220 Congenital abnormality of vein group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 39 7
C0265950 Venous malformation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity; disease of cellular proliferation 38 3
C0431388 Microdysgenesis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 6 0
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3397 1843
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 3134 2672
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 2821 1111
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
C0003873 Rheumatoid Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 2723 2387
C0011847 Diabetes disease Endocrine System Diseases Disease or Syndrome disease of metabolism 2359 710
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2322 1085
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 2096 1536
C0030567 Parkinson Disease disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2078 990
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2044 281
C0003850 Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2006 267