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
C1318485 Liver regeneration disorder phenotype Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 345 0
C0041956 Ureteral obstruction phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 342 0
C1969372 Tubulointerstitial fibrosis phenotype Disease or Syndrome Abnormality of the genitourinary system 315 0
C0282612 Prostatic Intraepithelial Neoplasias disease Neoplasms Neoplastic Process 214 0
C3887524 Skin Erosion disease Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 209 0
C3714948 PACHYONYCHIA CONGENITA 3 disease Disease or Syndrome 208 0
C1658953 tumor vasculature phenotype Neoplastic Process 200 0
C4049446 Neointimal hyperplasia disease Disease or Syndrome 198 0
C0243038 Carcinoma, Lewis Lung disease Neoplasms Neoplastic Process; Experimental Model of Disease 186 0
C0878500 Intraepithelial Neoplasia disease Neoplasms Neoplastic Process 186 0
C0039103 Synovitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 183 0
C0278601 Inflammatory Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 183 0
C4087504 Peritoneal dissemination disease Neoplastic Process 170 0
C4524092 Chronic rhinosinusitis with nasal polyps disease Neoplastic Process 167 0
C1292753 Primary Effusion Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 166 0
C0149516 Chronic sinusitis disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of head or neck; Abnormality of the skeletal system 156 0
C0376154 Skin callus disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0
C0012546 Diphtheria disease Infections Disease or Syndrome 147 0
C0235989 Renal interstitial fibrosis disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 138 0
C0010692 Cystitis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system; Abnormality of the immune system 127 0
C0020217 Hydatidiform Mole disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 120 0
C0279530 Malignant Bone Neoplasm disease Neoplasms; Musculoskeletal Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 117 0
C4732730 Blood spots disease Disease or Syndrome Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 117 0
C0015302 External exotoses disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 109 0