Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0018553 Hamartoma Syndrome, Multiple disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease; disease of anatomical entity 270 139
C0027672 Neoplastic Syndromes, Hereditary group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387
C0391826 Lhermitte-Duclos disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease; disease of anatomical entity Abnormality of the nervous system 41 83
C1959582 PTEN Hamartoma Tumor Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease; disease of anatomical entity; syndrome 17 194
C0265326 Bannayan-Riley-Ruvalcaba Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome genetic disease; disease of anatomical entity 9 2
C1866398 Proteus-Like Syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 4 56
C1834711 CEREBELLOPARENCHYMAL DISORDER VI disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 3 56
C1834712 Cerebellar Granule Cell Hypertrophy and Megalencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 3 56
C1866376 Pten Hamartoma Tumor Syndrome With Granular Cell Tumor disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease; disease of anatomical entity 3 56