Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0740391 Middle Cerebral Artery Occlusion disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 607 0
C0028259 Nodule phenotype Acquired Abnormality 278 19
C0332853 Anastomosis disease Acquired Abnormality 155 2
C0376154 Skin callus disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0
C0339543 Epiretinal Membrane disease Eye Diseases Acquired Abnormality disease of anatomical entity Abnormality of the eye 97 0
C0332840 Amputated structure (morphologic abnormality) phenotype Wounds and Injuries Acquired Abnormality 94 0
C1519666 Tumor-Associated Vasculature disease Acquired Abnormality 84 0
C0004277 Tooth Attrition disease Stomatognathic Diseases Acquired Abnormality 66 5
C0334070 Maturation defect phenotype Acquired Abnormality 43 2
C0032584 polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 379 18
C1291129 Decreased reticulin phenotype Anatomical Abnormality 3 0
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1091 73
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47
C0026499 Monosomy group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11
C0000846 Agenesis disease Congenital Abnormality 161 44
C0026985 Myelodysplasia disease Congenital Abnormality 135 3
C0003857 Congenital arteriovenous malformation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 127 23
C0340970 Congenital neutropenia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality 65 10
C1318518 Infantile malignant osteopetrosis disease Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 12 0
C1327915 Congenital amegakaryocytic thrombocytopenia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality genetic disease; disease of anatomical entity 7 4
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 2694 1598
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 2650 714
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 2395 676
C0011847 Diabetes disease Endocrine System Diseases Disease or Syndrome disease of metabolism 2314 611
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1998 271