Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1512981 Mammary Tumorigenesis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 162 5
C1707444 Columnar Cell Change of the Breast phenotype Neoplastic Process 82 3
C1301194 Salivary duct carcinoma disease Neoplasms Neoplastic Process 54 9
C2986703 Overgrowth Syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 36 6
C0265950 Venous malformation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity; disease of cellular proliferation 35 3
C2937220 Congenital abnormality of vein group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 35 3
C0398368 Lymphatic Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Anatomical Abnormality 29 6
C0023804 Lipomatosis, Multiple Symmetrical disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity 28 2
C0023801 Lipomatosis disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Neoplasm; Abnormality of connective tissue 16 1
C0334348 Hidradenoma Papilliferum disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 10 5
C0334036 Apocrine metaplasia disease Neoplastic Process 7 1
C0265552 Congenital macrodactylia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 6 2