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
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
C3714948 PACHYONYCHIA CONGENITA 3 disease Disease or Syndrome 208 0
C4049446 Neointimal hyperplasia disease Disease or Syndrome 198 0
C0878500 Intraepithelial Neoplasia disease Neoplasms Neoplastic Process 186 0
C0278601 Inflammatory Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 183 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
C0376154 Skin callus disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0
C0024266 Lymphocytic Choriomeningitis disease Infections; Nervous System Diseases Disease or Syndrome disease of anatomical entity; disease by infectious agent 144 0
C0001486 Adenovirus Infections group Infections Disease or Syndrome 142 0
C0037579 Soft Tissue Neoplasms group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm 141 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
C0153014 Non-arthropod borne lymphocytic choriomeningitis disease Infections; Nervous System Diseases Disease or Syndrome 133 0
C0008373 Cholesteatoma disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Neoplasm; Abnormality of the ear 127 0
C0334299 Carcinoid tumor no ICD-O subtype phenotype Neoplasms Neoplastic Process 122 0
C1851710 LATERAL MENINGOCELE SYNDROME disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease 118 0
C1168327 High-Grade Prostatic Intraepithelial Neoplasia disease Neoplasms; Male Urogenital Diseases Neoplastic Process 111 0
C0015302 External exotoses disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 109 0
C3544205 Ovarian clear cell carcinoma disease Neoplastic Process 102 0
C0085109 Corneal Neovascularization disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 100 0
C0206743 Rhabdoid Tumor disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 98 0