Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027672 Neoplastic Syndromes, Hereditary group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 67 6385
C0018022 Endemic goiter disease Endocrine System Diseases Disease or Syndrome disease of metabolism 2 3
C1266144 Pleuropulmonary blastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 1 133
C0205898 pineoblastoma disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 1 6
C1867234 Rhabdomyosarcoma, Embryonal, 2 disease Neoplasms Neoplastic Process 1 3