Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0279607 Adult Hepatocellular Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 9
C0279606 Childhood Hepatocellular Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2
C0010276 Craniopharyngioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm 2
C1851402 Exudative vitreoretinopathy 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2
C0339539 Familial Exudative Vitreoretinopathy disease Congenital Abnormality disease of anatomical entity 2
C0079218 Fibromatosis, Aggressive disease Neoplasms Neoplastic Process disease of anatomical entity Abnormality of the digestive system; Neoplasm 2
C3554449 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 disease Disease or Syndrome genetic disease; disease of mental health 1
C0206711 Pilomatrixoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 1