Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0009324 Ulcerative Colitis disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 1277 392
C0524620 Metabolic Syndrome X disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; syndrome 1083 477
C0003864 Arthritis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 992 66
C0031099 Periodontitis disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck 639 90
C0015672 Fatigue phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 445 48
C0022104 Irritable Bowel Syndrome disease Digestive System Diseases Disease or Syndrome syndrome 421 51
C0266929 Chronic Periodontitis disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 277 99
C0016053 Fibromyalgia disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 143 38
C0031069 Familial Mediterranean Fever disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 129 41
C0006309 Brucellosis disease Infections Disease or Syndrome disease by infectious agent 90 30
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 82 7
C0022521 Kartagener Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 57 3
C0003868 Arthritis, Gouty disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 51 14
C0221014 Reactive systemic amyloidosis disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 41 11
C3536715 AA amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome 38 10