Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027831 Neurofibromatosis 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process genetic disease 311 827
C0349639 Juvenile Myelomonocytic Leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 179 70
C0162678 Neurofibromatoses group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process genetic disease Abnormality of the integument; Abnormality of the nervous system; Neoplasm 135 16
C0027672 Neoplastic Syndromes, Hereditary group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387
C2931482 Neurofibromatosis-Noonan syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 25
C0553586 Cafe-au-lait macules with pulmonary stenosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 3 18
C1834235 NEUROFIBROMATOSIS, FAMILIAL SPINAL disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome genetic disease 1 22